nsv3919844
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:9,115,068
- Description:GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 30028 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 30024 SVs from 135 studies. See in: genome view
Overlapping variant regions from other studies: 7586 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3919844 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 78,704,275 | 87,819,342 |
| nsv3919844 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 78,738,172 | 87,852,948 |
| nsv3919844 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 77,295,673 | 86,410,449 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119906 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053359.5, VCV000059517.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15119906 | Submitted genomic | NC_000016.10:g.(?_ 78704275)_(8781934 2_?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 78,704,275 | 87,819,342 |
| nssv15119906 | Submitted genomic | NC_000016.9:g.(?_7 8738172)_(87852948 _?)del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 78,738,172 | 87,852,948 |
| nssv15119906 | Submitted genomic | NC_000016.8:g.(?_7 7295673)_(86410449 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 77,295,673 | 86,410,449 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15119906 | GRCh37: NC_000016.9:g.(?_78738172)_(87852948_?)del, GRCh38: NC_000016.10:g.(?_78704275)_(87819342_?)del, NCBI36: NC_000016.8:g.(?_77295673)_(86410449_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053359.5, VCV000059517.1 | 1 |