nsv5673474
- 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:53,756
- Description:NC_000003.11:g.(?_14166684)_(14220439_?)del 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: 227 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 227 SVs from 60 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 |
---|---|---|---|---|---|---|---|---|---|
nsv5673474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 14,125,184 | 14,178,939 |
nsv5673474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 14,166,684 | 14,220,439 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
---|---|---|---|---|---|---|---|
nssv17172785 | deletion | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001384233.3, VCV001071711.3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17172785 | Remapped | Perfect | NC_000003.12:g.(?_ 14125184)_(1417893 9_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 14,125,184 | 14,178,939 |
nssv17172785 | Submitted genomic | NC_000003.11:g.(?_ 14166684)_(1422043 9_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 14,166,684 | 14,220,439 |
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 |
---|---|---|---|---|---|---|---|
nssv17172785 | GRCh37: NC_000003.11:g.(?_14166684)_(14220439_?)del | deletion | germline | not provided | Pathogenic | ClinVar | RCV001384233.3, VCV001071711.3 |