nsv7096781
- 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:27,453
- Description:NC_000005.9:g.(?_61653944)_(61681396_?)dup 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: 172 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 172 SVs from 39 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7096781 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 62,358,117 | 62,385,569 |
| nsv7096781 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 61,653,944 | 61,681,396 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18787522 | duplication | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV003122520.1, VCV002423688.2 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18787522 | Remapped | Perfect | NC_000005.10:g.(?_ 62358117)_(6238556 9_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 62,358,117 | 62,385,569 |
| nssv18787522 | Submitted genomic | NC_000005.9:g.(?_6 1653944)_(61681396 _?)dup | GRCh37 (hg19) | NC_000005.9 | Chr5 | 61,653,944 | 61,681,396 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18787522 | GRCh37: NC_000005.9:g.(?_61653944)_(61681396_?)dup | duplication | germline | not provided | Uncertain significance | ClinVar | RCV003122520.1, VCV002423688.2 |