nsv7099014
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:221,748
- Description:
NC_000007.14:g.158815519_159037266dup AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1439 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 1439 SVs from 80 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7099014 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 158,815,519 | 159,037,266 | ||
| nsv7099014 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 158,608,210 | 158,829,957 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18792875 | duplication | Multiple | Multiple | not specified | Uncertain significance | ClinVar | RCV003225676.1, VCV002500764.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18792875 | Submitted genomic | NC_000007.14:g.158 815519_159037266du p | GRCh38 (hg38) | NC_000007.14 | Chr7 | 158,815,519 | 159,037,266 | ||
| nssv18792875 | Remapped | Perfect | NC_000007.13:g.158 608210_158829957du p | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 158,608,210 | 158,829,957 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18792875 | GRCh38: NC_000007.14:g.158815519_159037266dup | duplication | maternal | not specified | Uncertain significance | ClinVar | RCV003225676.1, VCV002500764.1 |