nsv3880739
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,074,079
- Description:GRCh37/hg19 1q32.1(chr1:200873507-201947585)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2366 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 2366 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3880739 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 200,904,379 | 201,978,457 |
nsv3880739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 200,873,507 | 201,947,585 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15153327 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000684686.1, VCV000565211.1 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15153327 | Remapped | Perfect | NC_000001.11:g.(?_ 200904379)_(201978 457_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 200,904,379 | 201,978,457 |
nssv15153327 | Submitted genomic | NC_000001.10:g.(?_ 200873507)_(201947 585_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 200,873,507 | 201,947,585 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15153327 | GRCh37: NC_000001.10:g.(?_200873507)_(201947585_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000684686.1, VCV000565211.1 | 3 |