nsv3879505
- 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:675,547
- Description:GRCh37/hg19 4q22.1(chr4:91797748-92473294)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2469 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 2469 SVs from 100 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3879505 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 90,876,597 | 91,552,143 |
nsv3879505 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 91,797,748 | 92,473,294 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15141885 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000447338.3, VCV000394326.3 | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15141885 | Remapped | Perfect | NC_000004.12:g.(?_ 90876597)_(9155214 3_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 90,876,597 | 91,552,143 |
nssv15141885 | Submitted genomic | NC_000004.11:g.(?_ 91797748)_(9247329 4_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 91,797,748 | 92,473,294 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15141885 | GRCh37: NC_000004.11:g.(?_91797748)_(92473294_?)del | copy number loss | not provided | See cases | Likely benign | ClinVar | RCV000447338.3, VCV000394326.3 | 1 |