nsv3911746
- 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:8,916,627
- Description:GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)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: 44336 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 42001 SVs from 138 studies. See in: genome view
Overlapping variant regions from other studies: 15507 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 |
|---|---|---|---|---|---|---|---|
| nsv3911746 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 97,938,637 | 106,855,263 |
| nsv3911746 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 98,404,974 | 107,263,478 |
| nsv3911746 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 97,474,727 | 106,334,523 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161030 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050696.5, VCV000057085.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161030 | Submitted genomic | NC_000014.9:g.(?_9 7938637)_(10685526 3_?)del | GRCh38 (hg38) | NC_000014.9 | Chr14 | 97,938,637 | 106,855,263 |
| nssv15161030 | Submitted genomic | NC_000014.8:g.(?_9 8404974)_(10726347 8_?)del | GRCh37 (hg19) | NC_000014.8 | Chr14 | 98,404,974 | 107,263,478 |
| nssv15161030 | Submitted genomic | NC_000014.7:g.(?_9 7474727)_(10633452 3_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 97,474,727 | 106,334,523 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161030 | GRCh37: NC_000014.8:g.(?_98404974)_(107263478_?)del, GRCh38: NC_000014.9:g.(?_97938637)_(106855263_?)del, NCBI36: NC_000014.7:g.(?_97474727)_(106334523_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000050696.5, VCV000057085.1 | 1 |