nsv3913554
- 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:410,211
- Description:GRCh38/hg38 11q12.3(chr11:62452571-62862781)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: 1385 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 1385 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 262 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3913554 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 62,452,571 | 62,862,781 |
| nsv3913554 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 62,220,043 | 62,630,253 |
| nsv3913554 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 61,976,619 | 62,386,829 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146473 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000053621.4, VCV000059755.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146473 | Submitted genomic | NC_000011.10:g.(?_ 62452571)_(6286278 1_?)dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 62,452,571 | 62,862,781 |
| nssv15146473 | Submitted genomic | NC_000011.9:g.(?_6 2220043)_(62630253 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 62,220,043 | 62,630,253 |
| nssv15146473 | Submitted genomic | NC_000011.8:g.(?_6 1976619)_(62386829 _?)dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 61,976,619 | 62,386,829 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146473 | GRCh37: NC_000011.9:g.(?_62220043)_(62630253_?)dup, GRCh38: NC_000011.10:g.(?_62452571)_(62862781_?)dup, NCBI36: NC_000011.8:g.(?_61976619)_(62386829_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV000053621.4, VCV000059755.1 | 3 |