nsv4673999
- 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:2,164,676
- Description:GRCh37/hg19 1p13.2-13.1(chr1:114024461-116189135)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: 4542 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 4542 SVs from 90 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4673999 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 113,481,839 | 115,646,514 |
| nsv4673999 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 114,024,461 | 116,189,135 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207733 | copy number loss | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV001005130.1, VCV000814118.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207733 | Remapped | Perfect | NC_000001.11:g.(?_ 113481839)_(115646 514_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 113,481,839 | 115,646,514 |
| nssv16207733 | Submitted genomic | NC_000001.10:g.(?_ 114024461)_(116189 135_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 114,024,461 | 116,189,135 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207733 | GRCh37: NC_000001.10:g.(?_114024461)_(116189135_?)del | copy number loss | germline | not provided | Likely pathogenic | ClinVar | RCV001005130.1, VCV000814118.1 | 1 |