nsv6637543
- 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:823,898
- Description:GRCh37/hg19 17q21.32-21.33(chr17:46753824-47577721)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: 2861 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 2861 SVs from 87 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637543 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 48,676,462 | 49,500,359 |
| nsv6637543 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 46,753,824 | 47,577,721 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329481 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472415.1, VCV001807609.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329481 | Remapped | Perfect | NC_000017.11:g.(?_ 48676462)_(4950035 9_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 48,676,462 | 49,500,359 |
| nssv18329481 | Submitted genomic | NC_000017.10:g.(?_ 46753824)_(4757772 1_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 46,753,824 | 47,577,721 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329481 | GRCh37: NC_000017.10:g.(?_46753824)_(47577721_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472415.1, VCV001807609.1 | 3 |