nsv3920471
- 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:289,292
- Description:GRCh38/hg38 6p22.2(chr6:25991402-26280693)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: 810 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 810 SVs from 78 studies. See in: genome view
Overlapping variant regions from other studies: 179 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920471 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000006.12 | Chr6 | 25,991,402 | 26,280,693 |
| nsv3920471 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 25,991,630 | 26,280,921 |
| nsv3920471 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 26,099,609 | 26,388,900 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136832 | copy number gain | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000139521.4, VCV000150704.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136832 | Submitted genomic | NC_000006.12:g.(?_ 25991402)_(2628069 3_?)dup | GRCh38 (hg38) | NC_000006.12 | Chr6 | 25,991,402 | 26,280,693 |
| nssv15136832 | Submitted genomic | NC_000006.11:g.(?_ 25991630)_(2628092 1_?)dup | GRCh37 (hg19) | NC_000006.11 | Chr6 | 25,991,630 | 26,280,921 |
| nssv15136832 | Submitted genomic | NC_000006.10:g.(?_ 26099609)_(2638890 0_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 26,099,609 | 26,388,900 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136832 | GRCh37: NC_000006.11:g.(?_25991630)_(26280921_?)dup, GRCh38: NC_000006.12:g.(?_25991402)_(26280693_?)dup, NCBI36: NC_000006.10:g.(?_26099609)_(26388900_?)dup | copy number gain | not provided | See cases | Likely benign | ClinVar | RCV000139521.4, VCV000150704.2 | 3 |