nsv3922133
- 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:441,338
- Description:GRCh38/hg38 17q23.3-24.1(chr17:64307125-64748462)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: 1083 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 446 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 219 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922133 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 64,307,125 | 64,748,462 |
| nsv3922133 | Submitted genomic | GRCh37.p13 | PATCHES | NW_003315947.1 | Chr17|NW_0 03315947.1 | 110,972 | 457,041 |
| nsv3922133 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 59,738,217 | 60,175,042 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133973 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135784.4, VCV000146504.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133973 | Submitted genomic | NC_000017.11:g.(?_ 64307125)_(6474846 2_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 64,307,125 | 64,748,462 |
| nssv15133973 | Submitted genomic | NW_003315947.1:g.( ?_110972)_(457041_ ?)del | GRCh37.p13 | NW_003315947.1 | Chr17|NW_0 03315947.1 | 110,972 | 457,041 |
| nssv15133973 | Submitted genomic | NC_000017.9:g.(?_5 9738217)_(60175042 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 59,738,217 | 60,175,042 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133973 | GRCh37: NW_003315947.1:g.(?_110972)_(457041_?)del, GRCh38: NC_000017.11:g.(?_64307125)_(64748462_?)del, NCBI36: NC_000017.9:g.(?_59738217)_(60175042_?)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000135784.4, VCV000146504.2 | 1 |