nsv4674083
- 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:1,287,609
- Description:GRCh37/hg19 3p21.31(chr3:48346677-49630228)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: 3901 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 3883 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4674083 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 48,305,187 | 49,592,795 |
| nsv4674083 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 48,346,677 | 49,630,228 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16207900 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005432.1, VCV000814442.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16207900 | Remapped | Good | NC_000003.12:g.(?_ 48305187)_(4959279 5_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 48,305,187 | 49,592,795 |
| nssv16207900 | Submitted genomic | NC_000003.11:g.(?_ 48346677)_(4963022 8_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 48,346,677 | 49,630,228 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16207900 | GRCh37: NC_000003.11:g.(?_48346677)_(49630228_?)del | copy number loss | germline | not provided | Pathogenic | ClinVar | RCV001005432.1, VCV000814442.1 | 1 |