nsv6637557
- 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:930,417
- Description:GRCh37/hg19 17p12-11.2(chr17:15722840-16653256)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: 3097 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3097 SVs from 96 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6637557 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 15,819,526 | 16,749,942 |
| nsv6637557 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 15,722,840 | 16,653,256 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18329686 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV002472908.1, VCV001808102.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18329686 | Remapped | Perfect | NC_000017.11:g.(?_ 15819526)_(1674994 2_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 15,819,526 | 16,749,942 |
| nssv18329686 | Submitted genomic | NC_000017.10:g.(?_ 15722840)_(1665325 6_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 15,722,840 | 16,653,256 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18329686 | GRCh37: NC_000017.10:g.(?_15722840)_(16653256_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV002472908.1, VCV001808102.1 | 3 |