nsv4674157
- 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:5,481,827
- Description:GRCh37/hg19 1q41-42.13(chr1:222641389-228137574)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: 13945 SVs from 120 studies. See in: genome view
Overlapping variant regions from other studies: 13959 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674157 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 222,468,047 | 227,949,873 |
| nsv4674157 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 222,641,389 | 228,137,574 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207760 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005178.1, VCV000814166.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207760 | Remapped | Good | NC_000001.11:g.(?_ 222468047)_(227949 873_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 222,468,047 | 227,949,873 |
| nssv16207760 | Submitted genomic | NC_000001.10:g.(?_ 222641389)_(228137 574_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 222,641,389 | 228,137,574 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207760 | GRCh37: NC_000001.10:g.(?_222641389)_(228137574_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005178.1, VCV000814166.1 | 1 |