nsv3914957
- 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:2,316,659
- Description:GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)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: 6400 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 6400 SVs from 105 studies. See in: genome view
Overlapping variant regions from other studies: 1602 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3914957 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 57,418,806 | 59,735,464 |
| nsv3914957 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 55,496,167 | 57,812,825 |
| nsv3914957 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 52,851,166 | 55,167,607 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15145952 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000140211.3, VCV000151500.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15145952 | Submitted genomic | NC_000017.11:g.(?_ 57418806)_(5973546 4_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 57,418,806 | 59,735,464 |
| nssv15145952 | Submitted genomic | NC_000017.10:g.(?_ 55496167)_(5781282 5_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 55,496,167 | 57,812,825 |
| nssv15145952 | Submitted genomic | NC_000017.9:g.(?_5 2851166)_(55167607 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 52,851,166 | 55,167,607 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15145952 | GRCh37: NC_000017.10:g.(?_55496167)_(57812825_?)del, GRCh38: NC_000017.11:g.(?_57418806)_(59735464_?)del, NCBI36: NC_000017.9:g.(?_52851166)_(55167607_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000140211.3, VCV000151500.1 | 1 |