nsv3919565
- 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:10,666,177
- Description:GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)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: 39037 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 38708 SVs from 142 studies. See in: genome view
Overlapping variant regions from other studies: 10853 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 |
|---|---|---|---|---|---|---|---|
| nsv3919565 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 61,793 | 10,727,969 |
| nsv3919565 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 61,793 | 10,749,516 |
| nsv3919565 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 51,793 | 10,706,092 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15161344 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139987.5, VCV000151263.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15161344 | Submitted genomic | NC_000011.10:g.(?_ 61793)_(10727969_? )dup | GRCh38 (hg38) | NC_000011.10 | Chr11 | 61,793 | 10,727,969 |
| nssv15161344 | Submitted genomic | NC_000011.9:g.(?_6 1793)_(10749516_?) dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 61,793 | 10,749,516 |
| nssv15161344 | Submitted genomic | NC_000011.8:g.(?_5 1793)_(10706092_?) dup | NCBI36 (hg18) | NC_000011.8 | Chr11 | 51,793 | 10,706,092 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15161344 | GRCh37: NC_000011.9:g.(?_61793)_(10749516_?)dup, GRCh38: NC_000011.10:g.(?_61793)_(10727969_?)dup, NCBI36: NC_000011.8:g.(?_51793)_(10706092_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000139987.5, VCV000151263.1 | 3 |