nsv4453170
- 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:1,987,521
- Description:GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)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: 5842 SVs from 108 studies. See in: genome view
Overlapping variant regions from other studies: 5842 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4453170 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 31,733,908 | 33,721,428 |
nsv4453170 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 31,958,977 | 33,946,495 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15771945 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV000846044.2, VCV000685336.2 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15771945 | Remapped | Perfect | NC_000002.12:g.(?_ 31733908)_(3372142 8_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 31,733,908 | 33,721,428 |
nssv15771945 | Submitted genomic | NC_000002.11:g.(?_ 31958977)_(3394649 5_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 31,958,977 | 33,946,495 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15771945 | GRCh37: NC_000002.11:g.(?_31958977)_(33946495_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV000846044.2, VCV000685336.2 | 1 |