nsv4376100
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:87,930
- Publication(s):Zarrei et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1334 SVs from 98 studies. See in: genome view
Overlapping variant regions from other studies: 1273 SVs from 97 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4376100 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nsv4376100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612872 | copy number gain | 1-0675-002 | SNP array | Genotyping | 19 |
| nssv15616807 | copy number gain | 1-0807-003 | SNP array | Genotyping | 22 |
| nssv15618238 | copy number gain | 1-0860-003 | SNP array | Genotyping | 31 |
| nssv15620069 | copy number gain | 1-0916-003 | SNP array | Genotyping | 22 |
| nssv15625040 | copy number gain | 1-0345-001 | SNP array | Genotyping | 27 |
| nssv15625088 | copy number gain | 1-0375-002 | SNP array | Genotyping | 19 |
| nssv15632151 | copy number loss | 10-0011-003 | SNP array | Genotyping | 26 |
| nssv15639721 | copy number gain | 14-0187-004 | SNP array | Genotyping | 27 |
| nssv15643952 | copy number gain | 16-1009-001 | SNP array | Genotyping | 30 |
| nssv15644803 | copy number gain | 16-1009-004 | SNP array | Genotyping | 28 |
| nssv15646782 | copy number loss | 2-1085-004 | SNP array | Genotyping | 20 |
| nssv15647230 | copy number loss | 2-1085-003 | SNP array | Genotyping | 16 |
| nssv15647436 | copy number gain | 2-0197-004 | SNP array | Genotyping | 20 |
| nssv15668203 | copy number loss | 7-0180-003 | SNP array | Genotyping | 21 |
| nssv15668600 | copy number gain | 7-0202-003 | SNP array | Genotyping | 32 |
| nssv15672183 | copy number gain | 9-0015-002 | SNP array | Genotyping | 23 |
| nssv15678438 | copy number gain | 192711 | SNP array | Genotyping | 20 |
| nssv15678731 | copy number gain | 166508 | SNP array | Genotyping | 11 |
| nssv15679711 | copy number gain | 192215 | SNP array | Genotyping | 24 |
| nssv15689317 | copy number gain | OCD10-S_896173 | SNP array | Genotyping | 23 |
| nssv15700867 | copy number gain | 217142 | SNP array | Genotyping | 27 |
| nssv15702958 | copy number gain | 237508 | SNP array | Genotyping | 39 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612872 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15616807 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15618238 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15620069 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15625040 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15625088 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15632151 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15639721 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15643952 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15644803 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15646782 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15647230 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15647436 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15668203 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15668600 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15672183 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15678438 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15678731 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15679711 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15689317 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15700867 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15702958 | Remapped | Perfect | NC_000022.11:g.(?_ 18929330)_(1901725 9_?)dup | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 18,929,330 | 19,017,259 |
| nssv15612872 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15616807 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15618238 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15620069 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15625040 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15625088 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15632151 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15639721 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15643952 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15644803 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15646782 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15647230 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15647436 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15668203 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15668600 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15672183 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15678438 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15678731 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15679711 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15689317 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15700867 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 | ||
| nssv15702958 | Submitted genomic | NC_000022.10:g.(?_ 18916843)_(1900477 2_?)dup | GRCh37 (hg19) | NC_000022.10 | Chr22 | 18,916,843 | 19,004,772 |