nsv3922576
- 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:6,119,605
- Description:GRCh38/hg38 6p25.3-25.1(chr6:164633-6284237)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: 20812 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 20803 SVs from 124 studies. See in: genome view
Overlapping variant regions from other studies: 5752 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 |
|---|---|---|---|---|---|---|---|
| nsv3922576 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 164,633 | 6,284,237 |
| nsv3922576 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 164,633 | 6,284,470 |
| nsv3922576 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 109,633 | 6,229,469 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132182 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000052163.7, VCV000058409.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132182 | Submitted genomic | NC_000006.12:g.(?_ 164633)_(6284237_? )del | GRCh38 (hg38) | NC_000006.12 | Chr6 | 164,633 | 6,284,237 |
| nssv15132182 | Submitted genomic | NC_000006.11:g.(?_ 164633)_(6284470_? )del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 164,633 | 6,284,470 |
| nssv15132182 | Submitted genomic | NC_000006.10:g.(?_ 109633)_(6229469_? )del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 109,633 | 6,229,469 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132182 | GRCh37: NC_000006.11:g.(?_164633)_(6284470_?)del, GRCh38: NC_000006.12:g.(?_164633)_(6284237_?)del, NCBI36: NC_000006.10:g.(?_109633)_(6229469_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000052163.7, VCV000058409.2 | 1 |