nsv4676195
- 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:62,800
- Description:GRCh37/hg19 22q12.3(chr22:37333935-37396733)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: 287 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 287 SVs from 48 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 |
---|---|---|---|---|---|---|---|---|---|
nsv4676195 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 36,937,893 | 37,000,692 |
nsv4676195 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 37,333,935 | 37,396,733 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv16209010 | copy number loss | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001007189.1, VCV000816224.1 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16209010 | Remapped | Good | NC_000022.11:g.(?_ 36937893)_(3700069 2_?)del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 36,937,893 | 37,000,692 |
nssv16209010 | Submitted genomic | NC_000022.10:g.(?_ 37333935)_(3739673 3_?)del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 37,333,935 | 37,396,733 |
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 |
---|---|---|---|---|---|---|---|---|
nssv16209010 | GRCh37: NC_000022.10:g.(?_37333935)_(37396733_?)del | copy number loss | germline | not provided | Uncertain significance | ClinVar | RCV001007189.1, VCV000816224.1 | 1 |