nsv3914259
- 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:279,067
- Description:GRCh38/hg38 17p13.3(chr17:1227482-1506548)x1 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: 2157 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2157 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914259 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 1,227,482 | 1,506,548 |
| nsv3914259 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 1,130,776 | 1,409,842 |
| nsv3914259 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 1,077,526 | 1,356,592 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133399 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000051181.4, VCV000057472.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133399 | Submitted genomic | NC_000017.11:g.(?_ 1227482)_(1506548_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 1,227,482 | 1,506,548 |
| nssv15133399 | Submitted genomic | NC_000017.10:g.(?_ 1130776)_(1409842_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 1,130,776 | 1,409,842 |
| nssv15133399 | Submitted genomic | NC_000017.9:g.(?_1 077526)_(1356592_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 1,077,526 | 1,356,592 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133399 | GRCh37: NC_000017.10:g.(?_1130776)_(1409842_?)del, GRCh38: NC_000017.11:g.(?_1227482)_(1506548_?)del, NCBI36: NC_000017.9:g.(?_1077526)_(1356592_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000051181.4, VCV000057472.1 | 1 |