nsv3920293
- 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:208,274
- Description:GRCh38/hg38 7q32.2(chr7:130282044-130490317)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: 568 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 184 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 9 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920293 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 130,282,044 | 130,490,317 |
| nsv3920293 | Submitted genomic | GRCh37.p13 | PATCHES | NW_003871065.1 | Chr7|NW_00 3871065.1 | 1 | 145,735 |
| nsv3920293 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 129,709,120 | 129,917,394 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15133693 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000135732.5, VCV000146435.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15133693 | Submitted genomic | NC_000007.14:g.(?_ 130282044)_(130490 317_?)del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 130,282,044 | 130,490,317 |
| nssv15133693 | Submitted genomic | NW_003871065.1:g.( ?_1)_(145735_?)del | GRCh37.p13 | NW_003871065.1 | Chr7|NW_00 3871065.1 | 1 | 145,735 |
| nssv15133693 | Submitted genomic | NC_000007.12:g.(?_ 129709120)_(129917 394_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 129,709,120 | 129,917,394 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15133693 | GRCh37: NW_003871065.1:g.(?_1)_(145735_?)del, GRCh38: NC_000007.14:g.(?_130282044)_(130490317_?)del, NCBI36: NC_000007.12:g.(?_129709120)_(129917394_?)del | copy number loss | maternal | See cases | Uncertain significance | ClinVar | RCV000135732.5, VCV000146435.2 | 1 |