nsv3920476
- 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:162,209
- Description:GRCh38/hg38 10q11.22(chr10:46169143-46331351)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: 2725 SVs from 110 studies. See in: genome view
Overlapping variant regions from other studies: 1832 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 1388 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 |
|---|---|---|---|---|---|---|---|
| nsv3920476 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 46,169,143 | 46,331,351 |
| nsv3920476 | Submitted genomic | GRCh37.p13 | PATCHES | NW_003871068.1 | Chr10|NW_0 03871068.1 | 440,258 | 589,544 |
| nsv3920476 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 47,010,385 | 47,172,593 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15147536 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000141631.4, VCV000153132.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15147536 | Submitted genomic | NC_000010.11:g.(?_ 46169143)_(4633135 1_?)del | GRCh38 (hg38) | NC_000010.11 | Chr10 | 46,169,143 | 46,331,351 |
| nssv15147536 | Submitted genomic | NW_003871068.1:g.( ?_440258)_(589544_ ?)del | GRCh37.p13 | NW_003871068.1 | Chr10|NW_0 03871068.1 | 440,258 | 589,544 |
| nssv15147536 | Submitted genomic | NC_000010.9:g.(?_4 7010385)_(47172593 _?)del | NCBI36 (hg18) | NC_000010.9 | Chr10 | 47,010,385 | 47,172,593 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15147536 | GRCh37: NW_003871068.1:g.(?_440258)_(589544_?)del, GRCh38: NC_000010.11:g.(?_46169143)_(46331351_?)del, NCBI36: NC_000010.9:g.(?_47010385)_(47172593_?)del | copy number loss | de novo | See cases | Likely benign | ClinVar | RCV000141631.4, VCV000153132.2 | 1 |