nsv3912739
- 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:127,662
- Description:GRCh38/hg38 11p13(chr11:31796707-31924368)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: 413 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3912739 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 31,796,707 | 31,924,368 |
| nsv3912739 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 31,818,255 | 31,945,914 |
| nsv3912739 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 31,774,831 | 31,902,490 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15134699 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000138154.4, VCV000149096.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15134699 | Submitted genomic | NC_000011.10:g.(?_ 31796707)_(3192436 8_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 31,796,707 | 31,924,368 |
| nssv15134699 | Submitted genomic | NC_000011.9:g.(?_3 1818255)_(31945914 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 31,818,255 | 31,945,914 |
| nssv15134699 | Submitted genomic | NC_000011.8:g.(?_3 1774831)_(31902490 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 31,774,831 | 31,902,490 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15134699 | GRCh37: NC_000011.9:g.(?_31818255)_(31945914_?)dup, GRCh38: NC_000011.10:g.(?_31796707)_(31924368_?)dup, NCBI36: NC_000011.8:g.(?_31774831)_(31902490_?)dup | copy number gain | paternal | See cases | Uncertain significance | ClinVar | RCV000138154.4, VCV000149096.2 | 3 |