nsv3921181
- 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:25,288,489
- Description:GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3 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: 70972 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 70240 SVs from 140 studies. See in: genome view
Overlapping variant regions from other studies: 20793 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921181 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 42,112,187 | 67,400,675 |
| nsv3921181 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 42,607,635 | 69,160,433 |
| nsv3921181 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 41,927,641 | 68,830,439 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15148987 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000142967.5, VCV000154900.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15148987 | Submitted genomic | NC_000010.11:g.(?_ 42112187)_(6740067 5_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 42,112,187 | 67,400,675 |
| nssv15148987 | Submitted genomic | NC_000010.10:g.(?_ 42607635)_(6916043 3_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 42,607,635 | 69,160,433 |
| nssv15148987 | Submitted genomic | NC_000010.9:g.(?_4 1927641)_(68830439 _?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 41,927,641 | 68,830,439 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15148987 | GRCh37: NC_000010.10:g.(?_42607635)_(69160433_?)dup, GRCh38: NC_000010.11:g.(?_42112187)_(67400675_?)dup, NCBI36: NC_000010.9:g.(?_41927641)_(68830439_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000142967.5, VCV000154900.2 | 3 |