nsv3913920
- 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:46,632,318
- Description:GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3 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: 147846 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 147849 SVs from 147 studies. See in: genome view
Overlapping variant regions from other studies: 45721 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913920 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 156,974 | 46,789,291 |
| nsv3913920 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 156,974 | 46,757,028 |
| nsv3913920 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 101,974 | 46,864,987 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161578 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000143497.6, VCV000155430.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161578 | Submitted genomic | NC_000006.12:g.(?_ 156974)_(46789291_ ?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 156,974 | 46,789,291 |
| nssv15161578 | Submitted genomic | NC_000006.11:g.(?_ 156974)_(46757028_ ?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 156,974 | 46,757,028 |
| nssv15161578 | Submitted genomic | NC_000006.10:g.(?_ 101974)_(46864987_ ?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 101,974 | 46,864,987 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161578 | GRCh37: NC_000006.11:g.(?_156974)_(46757028_?)dup, GRCh38: NC_000006.12:g.(?_156974)_(46789291_?)dup, NCBI36: NC_000006.10:g.(?_101974)_(46864987_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000143497.6, VCV000155430.2 | 3 |