nsv3911050
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:6,362,397
- Description:GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 19553 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 19554 SVs from 127 studies. See in: genome view
Overlapping variant regions from other studies: 5203 SVs from 34 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911050 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 5,732,953 | 12,095,349 |
| nsv3911050 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 5,636,273 | 11,998,666 |
| nsv3911050 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 5,576,997 | 11,939,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146650 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000134851.6, VCV000145484.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146650 | Submitted genomic | NC_000017.11:g.(?_ 5732953)_(12095349 _?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 5,732,953 | 12,095,349 |
| nssv15146650 | Submitted genomic | NC_000017.10:g.(?_ 5636273)_(11998666 _?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 5,636,273 | 11,998,666 |
| nssv15146650 | Submitted genomic | NC_000017.9:g.(?_5 576997)_(11939391_ ?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 5,576,997 | 11,939,391 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146650 | GRCh37: NC_000017.10:g.(?_5636273)_(11998666_?)dup, GRCh38: NC_000017.11:g.(?_5732953)_(12095349_?)dup, NCBI36: NC_000017.9:g.(?_5576997)_(11939391_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000134851.6, VCV000145484.2 | 3 |