nsv3900511
- 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:331,639
- Description:GRCh37/hg19 10p11.23(chr10:30346833-30678471)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: 942 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 942 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3900511 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 30,057,904 | 30,389,542 |
nsv3900511 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 30,346,833 | 30,678,471 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15158380 | copy number gain | Multiple | Multiple | not provided | Benign | ClinVar | RCV000737064.2, VCV000600428.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15158380 | Remapped | Perfect | NC_000010.11:g.(?_ 30057904)_(3038954 2_?)dup | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 30,057,904 | 30,389,542 |
nssv15158380 | Submitted genomic | NC_000010.10:g.(?_ 30346833)_(3067847 1_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 30,346,833 | 30,678,471 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15158380 | GRCh37: NC_000010.10:g.(?_30346833)_(30678471_?)dup | copy number gain | unknown | not provided | Benign | ClinVar | RCV000737064.2, VCV000600428.2 | 3 |