nsv3915354
- 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:14,613,471
- Description:GRCh38/hg38 17p13.3-12(chr17:150732-14764202)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: 57221 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 54232 SVs from 139 studies. See in: genome view
Overlapping variant regions from other studies: 14293 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nsv3915354 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 150,732 | 14,764,202 |
nsv3915354 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 525 | 14,667,519 |
nsv3915354 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 525 | 14,608,244 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15148946 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142236.6, VCV000154089.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|
nssv15148946 | Submitted genomic | NC_000017.11:g.(?_ 150732)_(14764202_ ?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 150,732 | 14,764,202 |
nssv15148946 | Submitted genomic | NC_000017.10:g.(?_ 525)_(14667519_?)d up | GRCh37 (hg19) | NC_000017.10 | Chr17 | 525 | 14,667,519 |
nssv15148946 | Submitted genomic | NC_000017.9:g.(?_5 25)_(14608244_?)du p | NCBI36 (hg18) | NC_000017.9 | Chr17 | 525 | 14,608,244 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15148946 | GRCh37: NC_000017.10:g.(?_525)_(14667519_?)dup, GRCh38: NC_000017.11:g.(?_150732)_(14764202_?)dup, NCBI36: NC_000017.9:g.(?_525)_(14608244_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000142236.6, VCV000154089.2 | 3 |