nsv3907936
- 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:371,990
- Description:GRCh37/hg19 17q25.1(chr17:73057756-73429731)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: 1769 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 1769 SVs from 74 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3907936 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 75,061,661 | 75,433,650 |
| nsv3907936 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 73,057,756 | 73,429,731 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15153195 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000683961.1, VCV000564472.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15153195 | Remapped | Good | NC_000017.11:g.(?_ 75061661)_(7543365 0_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 75,061,661 | 75,433,650 |
| nssv15153195 | Submitted genomic | NC_000017.10:g.(?_ 73057756)_(7342973 1_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 73,057,756 | 73,429,731 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15153195 | GRCh37: NC_000017.10:g.(?_73057756)_(73429731_?)dup | copy number gain | germline | not provided | Uncertain significance | ClinVar | RCV000683961.1, VCV000564472.1 | 3 |