nsv3922079
- 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:453,400
- Description:GRCh38/hg38 11p13(chr11:31634904-32088303)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: 1194 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1196 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3922079 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 31,634,904 | 32,088,303 |
| nsv3922079 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 31,656,451 | 32,109,849 |
| nsv3922079 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 31,613,027 | 32,066,425 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15132521 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000050617.5, VCV000057032.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15132521 | Submitted genomic | NC_000011.10:g.(?_ 31634904)_(3208830 3_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 31,634,904 | 32,088,303 |
| nssv15132521 | Submitted genomic | NC_000011.9:g.(?_3 1656451)_(32109849 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 31,656,451 | 32,109,849 |
| nssv15132521 | Submitted genomic | NC_000011.8:g.(?_3 1613027)_(32066425 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 31,613,027 | 32,066,425 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15132521 | GRCh37: NC_000011.9:g.(?_31656451)_(32109849_?)dup, GRCh38: NC_000011.10:g.(?_31634904)_(32088303_?)dup, NCBI36: NC_000011.8:g.(?_31613027)_(32066425_?)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000050617.5, VCV000057032.1 | 3 |