nsv3913795
- 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:5,458,916
- Description:GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)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: 29042 SVs from 118 studies. See in: genome view
Overlapping variant regions from other studies: 26564 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 6249 SVs from 32 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913795 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 193,307 | 5,652,222 |
| nsv3913795 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 45,835 | 5,555,542 |
| nsv3913795 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 43,098 | 5,496,266 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134408 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053384.5, VCV000059542.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134408 | Submitted genomic | NC_000017.11:g.(?_ 193307)_(5652222_? )del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 193,307 | 5,652,222 |
| nssv15134408 | Submitted genomic | NC_000017.10:g.(?_ 45835)_(5555542_?) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 45,835 | 5,555,542 |
| nssv15134408 | Submitted genomic | NC_000017.9:g.(?_4 3098)_(5496266_?)d el | NCBI36 (hg18) | NC_000017.9 | Chr17 | 43,098 | 5,496,266 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134408 | GRCh37: NC_000017.10:g.(?_45835)_(5555542_?)del, GRCh38: NC_000017.11:g.(?_193307)_(5652222_?)del, NCBI36: NC_000017.9:g.(?_43098)_(5496266_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000053384.5, VCV000059542.1 | 1 |