nsv3921027
- 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:13,085,534
- Description:GRCh38/hg38 6p25.3-23(chr6:389423-13474956)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: 38152 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 38142 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 10496 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 |
|---|---|---|---|---|---|---|---|
| nsv3921027 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 389,423 | 13,474,956 |
| nsv3921027 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 389,423 | 13,475,188 |
| nsv3921027 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 334,423 | 13,583,167 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133514 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051896.8, VCV000058150.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133514 | Submitted genomic | NC_000006.12:g.(?_ 389423)_(13474956_ ?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 389,423 | 13,474,956 |
| nssv15133514 | Submitted genomic | NC_000006.11:g.(?_ 389423)_(13475188_ ?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 389,423 | 13,475,188 |
| nssv15133514 | Submitted genomic | NC_000006.10:g.(?_ 334423)_(13583167_ ?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 334,423 | 13,583,167 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133514 | GRCh37: NC_000006.11:g.(?_389423)_(13475188_?)dup, GRCh38: NC_000006.12:g.(?_389423)_(13474956_?)dup, NCBI36: NC_000006.10:g.(?_334423)_(13583167_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000051896.8, VCV000058150.2 | 3 |