nsv3910310
- 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:262,551
- Description:
GRCh38/hg38 6p25.3(chr6:1744004-2006554)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: 834 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 834 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 218 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910310 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 1,744,004 | 2,006,554 |
| nsv3910310 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 1,744,238 | 2,006,788 |
| nsv3910310 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 1,689,237 | 1,951,787 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15135984 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137859.4, VCV000148793.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15135984 | Submitted genomic | NC_000006.12:g.(?_ 1744004)_(2006554_ ?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 1,744,004 | 2,006,554 |
| nssv15135984 | Submitted genomic | NC_000006.11:g.(?_ 1744238)_(2006788_ ?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 1,744,238 | 2,006,788 |
| nssv15135984 | Submitted genomic | NC_000006.10:g.(?_ 1689237)_(1951787_ ?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 1,689,237 | 1,951,787 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15135984 | GRCh37: NC_000006.11:g.(?_1744238)_(2006788_?)del, GRCh38: NC_000006.12:g.(?_1744004)_(2006554_?)del, NCBI36: NC_000006.10:g.(?_1689237)_(1951787_?)del | copy number loss | paternal | See cases | Uncertain significance | ClinVar | RCV000137859.4, VCV000148793.2 | 1 |