nsv3921844
- 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:794,210
- Description:GRCh38/hg38 6q24.2(chr6:143618974-144413183)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: 1771 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1771 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 420 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921844 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 143,618,974 | 144,413,183 |
| nsv3921844 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 143,940,111 | 144,734,319 |
| nsv3921844 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 143,981,804 | 144,776,012 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138663 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000141785.4, VCV000153365.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138663 | Submitted genomic | NC_000006.12:g.(?_ 143618974)_(144413 183_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 143,618,974 | 144,413,183 |
| nssv15138663 | Submitted genomic | NC_000006.11:g.(?_ 143940111)_(144734 319_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 143,940,111 | 144,734,319 |
| nssv15138663 | Submitted genomic | NC_000006.10:g.(?_ 143981804)_(144776 012_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 143,981,804 | 144,776,012 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138663 | GRCh37: NC_000006.11:g.(?_143940111)_(144734319_?)dup, GRCh38: NC_000006.12:g.(?_143618974)_(144413183_?)dup, NCBI36: NC_000006.10:g.(?_143981804)_(144776012_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000141785.4, VCV000153365.2 | 3 |