nsv3916246
- 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:668,899
- Description:GRCh38/hg38 17q21.31(chr17:46130519-46799417)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: 5373 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 5116 SVs from 112 studies. See in: genome view
Overlapping variant regions from other studies: 2602 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3916246 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 46,130,519 | 46,799,417 |
| nsv3916246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 44,223,908 | 44,873,614 |
| nsv3916246 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 41,563,662 | 42,231,947 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15136656 | copy number loss | Multiple | Multiple | See cases | Benign | ClinVar | RCV000139073.5, VCV000150183.3 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15136656 | Submitted genomic | NC_000017.11:g.(?_ 46130519)_(4679941 7_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 46,130,519 | 46,799,417 |
| nssv15136656 | Submitted genomic | NC_000017.10:g.(?_ 44223908)_(4487361 4_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 44,223,908 | 44,873,614 |
| nssv15136656 | Submitted genomic | NC_000017.9:g.(?_4 1563662)_(42231947 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 41,563,662 | 42,231,947 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15136656 | GRCh37: NC_000017.10:g.(?_44223908)_(44873614_?)del, GRCh38: NC_000017.11:g.(?_46130519)_(46799417_?)del, NCBI36: NC_000017.9:g.(?_41563662)_(42231947_?)del | copy number loss | not provided | See cases | Benign | ClinVar | RCV000139073.5, VCV000150183.3 | 1 |