nsv3916436
- 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:6,965,786
- Description:GRCh38/hg38 6p25.3-24.3(chr6:156974-7122759)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: 23318 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 23309 SVs from 125 studies. See in: genome view
Overlapping variant regions from other studies: 6497 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916436 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 156,974 | 7,122,759 |
| nsv3916436 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 156,974 | 7,122,992 |
| nsv3916436 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 101,974 | 7,067,991 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138353 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142299.6, VCV000154194.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138353 | Submitted genomic | NC_000006.12:g.(?_ 156974)_(7122759_? )del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 156,974 | 7,122,759 |
| nssv15138353 | Submitted genomic | NC_000006.11:g.(?_ 156974)_(7122992_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 156,974 | 7,122,992 |
| nssv15138353 | Submitted genomic | NC_000006.10:g.(?_ 101974)_(7067991_? )del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 101,974 | 7,067,991 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138353 | GRCh37: NC_000006.11:g.(?_156974)_(7122992_?)del, GRCh38: NC_000006.12:g.(?_156974)_(7122759_?)del, NCBI36: NC_000006.10:g.(?_101974)_(7067991_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000142299.6, VCV000154194.2 | 1 |