nsv3917672
- 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:495,467
- Description:GRCh38/hg38 10q26.3(chr10:131448252-131943718)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: 2322 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 2104 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 526 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3917672 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 131,448,252 | 131,943,718 |
| nsv3917672 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 133,246,515 | 133,757,222 |
| nsv3917672 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000010.9 | Chr10 | 133,136,505 | 133,607,212 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15138913 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000143605.4, VCV000155538.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15138913 | Submitted genomic | NC_000010.11:g.(?_ 131448252)_(131943 718_?)dup | GRCh38 (hg38) | NC_000010.11 | Chr10 | 131,448,252 | 131,943,718 |
| nssv15138913 | Submitted genomic | NC_000010.10:g.(?_ 133246515)_(133757 222_?)dup | GRCh37 (hg19) | NC_000010.10 | Chr10 | 133,246,515 | 133,757,222 |
| nssv15138913 | Submitted genomic | NC_000010.9:g.(?_1 33136505)_(1336072 12_?)dup | NCBI36 (hg18) | NC_000010.9 | Chr10 | 133,136,505 | 133,607,212 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15138913 | GRCh37: NC_000010.10:g.(?_133246515)_(133757222_?)dup, GRCh38: NC_000010.11:g.(?_131448252)_(131943718_?)dup, NCBI36: NC_000010.9:g.(?_133136505)_(133607212_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000143605.4, VCV000155538.2 | 3 |