nsv3923152
- 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:3,576,510
- Description:GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)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: 13289 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 13294 SVs from 119 studies. See in: genome view
Overlapping variant regions from other studies: 3294 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3923152 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 3,601,515 | 7,178,024 |
| nsv3923152 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 3,504,809 | 7,081,343 |
| nsv3923152 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 3,451,558 | 7,022,067 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132964 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053406.4, VCV000059563.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132964 | Submitted genomic | NC_000017.11:g.(?_ 3601515)_(7178024_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 3,601,515 | 7,178,024 |
| nssv15132964 | Submitted genomic | NC_000017.10:g.(?_ 3504809)_(7081343_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 3,504,809 | 7,081,343 |
| nssv15132964 | Submitted genomic | NC_000017.9:g.(?_3 451558)_(7022067_? )del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 3,451,558 | 7,022,067 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132964 | GRCh37: NC_000017.10:g.(?_3504809)_(7081343_?)del, GRCh38: NC_000017.11:g.(?_3601515)_(7178024_?)del, NCBI36: NC_000017.9:g.(?_3451558)_(7022067_?)del | copy number loss | de novo | See cases | Pathogenic | ClinVar | RCV000053406.4, VCV000059563.1 | 1 |