nsv3910532
- 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:4,324,857
- Description:GRCh38/hg38 6q22.31-22.32(chr6:121829616-126154472)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: 10131 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 10132 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 2575 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3910532 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 121,829,616 | 126,154,472 |
| nsv3910532 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 122,150,762 | 126,475,618 |
| nsv3910532 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 122,192,461 | 126,517,311 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136363 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000137174.6, VCV000148091.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136363 | Submitted genomic | NC_000006.12:g.(?_ 121829616)_(126154 472_?)del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 121,829,616 | 126,154,472 |
| nssv15136363 | Submitted genomic | NC_000006.11:g.(?_ 122150762)_(126475 618_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 122,150,762 | 126,475,618 |
| nssv15136363 | Submitted genomic | NC_000006.10:g.(?_ 122192461)_(126517 311_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 122,192,461 | 126,517,311 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136363 | GRCh37: NC_000006.11:g.(?_122150762)_(126475618_?)del, GRCh38: NC_000006.12:g.(?_121829616)_(126154472_?)del, NCBI36: NC_000006.10:g.(?_122192461)_(126517311_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000137174.6, VCV000148091.2 | 1 |