nsv7097932
- 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:2,058,011
- Description:NC_000009.11:g.(?_133884602)_(135942612_?)dup 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: 6438 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 6438 SVs from 108 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 |
---|---|---|---|---|---|---|---|---|---|
nsv7097932 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 131,009,215 | 133,067,225 |
nsv7097932 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000009.11 | Chr9 | 133,884,602 | 135,942,612 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv18790657 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003116502.2, VCV002425485.2 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18790657 | Remapped | Perfect | NC_000009.12:g.(?_ 131009215)_(133067 225_?)dup | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 131,009,215 | 133,067,225 |
nssv18790657 | Submitted genomic | NC_000009.11:g.(?_ 133884602)_(135942 612_?)dup | GRCh37 (hg19) | NC_000009.11 | Chr9 | 133,884,602 | 135,942,612 |
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 |
---|---|---|---|---|---|---|---|
nssv18790657 | GRCh37: NC_000009.11:g.(?_133884602)_(135942612_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003116502.2, VCV002425485.2 |