nsv4675667
- 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:24,648,931
- Description:GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 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: 59077 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 59031 SVs from 130 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4675667 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 73,494,236 | 98,143,166 |
| nsv4675667 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 72,790,061 | 97,478,870 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16206767 | copy number gain | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV001005683.1, VCV000814693.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16206767 | Remapped | Good | NC_000005.10:g.(?_ 73494236)_(9814316 6_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 73,494,236 | 98,143,166 |
| nssv16206767 | Submitted genomic | NC_000005.9:g.(?_7 2790061)_(97478870 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 72,790,061 | 97,478,870 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16206767 | GRCh37: NC_000005.9:g.(?_72790061)_(97478870_?)dup | copy number gain | germline | not provided | Pathogenic | ClinVar | RCV001005683.1, VCV000814693.1 | 3 |