nsv7137156
- Organism: Homo sapiens
- Study:nstd233 (Bzdega et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,070,250
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: 2875 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2875 SVs from 88 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137156 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 61,451,737 | 62,521,986 | ||
| nsv7137156 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 59,529,098 | 60,599,347 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv18830931 | copy number loss | LLDD008.3 | Sequencing | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18830931 | Submitted genomic | NC_000017.11:g.(61 451737_?)_(?_62521 986)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 61,451,737 | 62,521,986 | ||
| nssv18830931 | Remapped | Perfect | NC_000017.10:g.(59 529098_?)_(?_60599 347)del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 59,529,098 | 60,599,347 |