nsv4729870
- 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:628,128
- Description:GRCh37/hg19 17q21.31(chr17:41221565-41775043)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: 2484 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2298 SVs from 95 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4729870 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 43,069,548 | 43,697,675 |
| nsv4729870 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 41,221,565 | 41,775,043 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16254532 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV001259896.1, VCV000980720.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16254532 | Remapped | Pass | NC_000017.11:g.(?_ 43069548)_(4369767 5_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 43,069,548 | 43,697,675 |
| nssv16254532 | Submitted genomic | NC_000017.10:g.(?_ 41221565)_(4177504 3_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 41,221,565 | 41,775,043 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv16254532 | GRCh37: NC_000017.10:g.(?_41221565)_(41775043_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV001259896.1, VCV000980720.1 | 3 |