nsv3972367
- 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:6,282,027
- Description:GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)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: 16489 SVs from 116 studies. See in: genome view
Overlapping variant regions from other studies: 16491 SVs from 116 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3972367 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 27,076,420 | 33,358,446 |
| nsv3972367 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 25,403,446 | 31,685,464 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15223231 | copy number gain | Multiple | Multiple | not provided | Likely pathogenic | ClinVar | RCV000762776.3, VCV000624545.3 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15223231 | Remapped | Perfect | NC_000017.11:g.(?_ 27076420)_(3335844 6_?)dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 27,076,420 | 33,358,446 |
| nssv15223231 | Submitted genomic | NC_000017.10:g.(?_ 25403446)_(3168546 4_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 25,403,446 | 31,685,464 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15223231 | GRCh37: NC_000017.10:g.(?_25403446)_(31685464_?)dup | copy number gain | germline | not provided | Likely pathogenic | ClinVar | RCV000762776.3, VCV000624545.3 | 3 |