nsv3923111
- 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:847,826
- Description:GRCh38/hg38 16p13.3(chr16:3820522-4668347)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: 3121 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3121 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923111 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 3,820,522 | 4,668,347 |
| nsv3923111 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 3,870,523 | 4,718,348 |
| nsv3923111 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 3,810,524 | 4,658,349 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135717 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000137768.5, VCV000148700.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135717 | Submitted genomic | NC_000016.10:g.(?_ 3820522)_(4668347_ ?)del | GRCh38 (hg38) | NC_000016.10 | Chr16 | 3,820,522 | 4,668,347 |
| nssv15135717 | Submitted genomic | NC_000016.9:g.(?_3 870523)_(4718348_? )del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 3,870,523 | 4,718,348 |
| nssv15135717 | Submitted genomic | NC_000016.8:g.(?_3 810524)_(4658349_? )del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 3,810,524 | 4,658,349 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135717 | GRCh37: NC_000016.9:g.(?_3870523)_(4718348_?)del, GRCh38: NC_000016.10:g.(?_3820522)_(4668347_?)del, NCBI36: NC_000016.8:g.(?_3810524)_(4658349_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000137768.5, VCV000148700.2 | 1 |