nsv3884561
- 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:11,125,011
- Description:GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1 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: 26387 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 26387 SVs from 120 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3884561 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 188,625,763 | 199,750,773 |
nsv3884561 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 189,490,490 | 200,615,496 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15162684 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000740789.2, VCV000604153.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15162684 | Remapped | Perfect | NC_000002.12:g.(?_ 188625763)_(199750 773_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 188,625,763 | 199,750,773 |
nssv15162684 | Submitted genomic | NC_000002.11:g.(?_ 189490490)_(200615 496_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 189,490,490 | 200,615,496 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15162684 | GRCh37: NC_000002.11:g.(?_189490490)_(200615496_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000740789.2, VCV000604153.2 | 1 |