nsv4729775
- 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:799,627
- Description:GRCh37/hg19 17p13.3(chr17:111222-964297)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: 7956 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 6187 SVs from 102 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729775 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 261,431 | 1,061,057 |
| nsv4729775 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 111,222 | 964,297 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254292 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259324.1, VCV000980148.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254292 | Remapped | Pass | NC_000017.11:g.(?_ 261431)_(1061057_? )dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 261,431 | 1,061,057 |
| nssv16254292 | Submitted genomic | NC_000017.10:g.(?_ 111222)_(964297_?) dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 111,222 | 964,297 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254292 | GRCh37: NC_000017.10:g.(?_111222)_(964297_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259324.1, VCV000980148.1 | 3 |