nsv6314042
- 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:7,790,168
- Description:GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232) AND not specified
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 10465 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 9772 SVs from 112 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6314042 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 22,164,047 | 29,954,214 |
| nsv6314042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 21,690,653 | 28,281,232 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17969127 | copy number gain | Multiple | Multiple | not specified | Pathogenic | ClinVar | RCV002052591.3, VCV001526572.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17969127 | Remapped | Pass | NC_000017.11:g.(?_ 22164047)_(2995421 4_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 22,164,047 | 29,954,214 |
| nssv17969127 | Submitted genomic | NC_000017.10:g.(?_ 21690653)_(2828123 2_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 21,690,653 | 28,281,232 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17969127 | GRCh37: NC_000017.10:g.(?_21690653)_(28281232_?)dup | copy number gain | germline | not specified | Pathogenic | ClinVar | RCV002052591.3, VCV001526572.3 |