nsv4449727
- Organism: Homo sapiens
- Study:nstd178 (Karolak et al. 2020)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:7,136
- Publication(s):Karolak et al. 2020
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: 162 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 162 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4449727 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 86,508,525 | 86,515,660 |
| nsv4449727 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 86,542,131 | 86,549,266 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv15768603 | copy number loss | 176.30 | Oligo aCGH | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15768603 | Remapped | Perfect | NC_000016.10:g.(86 508525_?)_(?_86515 660)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 86,508,525 | 86,515,660 |
| nssv15768603 | Submitted genomic | NC_000016.9:g.(865 42131_?)_(?_865492 66)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 86,542,131 | 86,549,266 |