nsv3911792
- 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:13,698,952
- Description:GRCh38/hg38 6p25.3-23(chr6:156974-13855925)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: 41434 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 41424 SVs from 129 studies. See in: genome view
Overlapping variant regions from other studies: 11455 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911792 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 156,974 | 13,855,925 |
| nsv3911792 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 156,974 | 13,856,156 |
| nsv3911792 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 101,974 | 13,964,135 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139679 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143782.6, VCV000155715.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139679 | Submitted genomic | NC_000006.12:g.(?_ 156974)_(13855925_ ?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 156,974 | 13,855,925 |
| nssv15139679 | Submitted genomic | NC_000006.11:g.(?_ 156974)_(13856156_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 156,974 | 13,856,156 |
| nssv15139679 | Submitted genomic | NC_000006.10:g.(?_ 101974)_(13964135_ ?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 101,974 | 13,964,135 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15139679 | GRCh37: NC_000006.11:g.(?_156974)_(13856156_?)del, GRCh38: NC_000006.12:g.(?_156974)_(13855925_?)del, NCBI36: NC_000006.10:g.(?_101974)_(13964135_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000143782.6, VCV000155715.2 | 1 |