nsv6637149
- 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:14,129,970
- Description:GRCh37/hg19 5p15.31-14.3(chr5:8081005-22210970)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: 43582 SVs from 137 studies. See in: genome view
Overlapping variant regions from other studies: 43612 SVs from 137 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637149 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 8,080,892 | 22,210,861 |
| nsv6637149 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 8,081,005 | 22,210,970 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18330785 | copy number loss | Multiple | Multiple | not provided | Pathogenic | ClinVar | RCV002472646.1, VCV001807840.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18330785 | Remapped | Perfect | NC_000005.10:g.(?_ 8080892)_(22210861 _?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 8,080,892 | 22,210,861 |
| nssv18330785 | Submitted genomic | NC_000005.9:g.(?_8 081005)_(22210970_ ?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 8,081,005 | 22,210,970 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18330785 | GRCh37: NC_000005.9:g.(?_8081005)_(22210970_?)del | copy number loss | unknown | not provided | Pathogenic | ClinVar | RCV002472646.1, VCV001807840.1 | 1 |