nsv3918212
- 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:125,439
- Description:GRCh38/hg38 6p22.2(chr6:25991391-26116829)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: 396 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 396 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 100 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 |
|---|---|---|---|---|---|---|---|
| nsv3918212 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 25,991,391 | 26,116,829 |
| nsv3918212 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 25,991,619 | 26,117,057 |
| nsv3918212 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 26,099,598 | 26,225,036 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15121445 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000140950.3, VCV000152408.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15121445 | Submitted genomic | NC_000006.12:g.(?_ 25991391)_(2611682 9_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 25,991,391 | 26,116,829 |
| nssv15121445 | Submitted genomic | NC_000006.11:g.(?_ 25991619)_(2611705 7_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 25,991,619 | 26,117,057 |
| nssv15121445 | Submitted genomic | NC_000006.10:g.(?_ 26099598)_(2622503 6_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,099,598 | 26,225,036 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15121445 | GRCh37: NC_000006.11:g.(?_25991619)_(26117057_?)dup, GRCh38: NC_000006.12:g.(?_25991391)_(26116829_?)dup, NCBI36: NC_000006.10:g.(?_26099598)_(26225036_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000140950.3, VCV000152408.1 | 3 |