nsv4457060
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,030,094
- Description:GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3 AND not provided
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2653 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 2653 SVs from 92 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4457060 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 60,732,013 | 61,762,106 |
nsv4457060 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 60,499,486 | 61,529,578 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15772962 | copy number gain | Multiple | Multiple | not provided | Uncertain significance | ClinVar | RCV000848682.2, VCV000687991.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv15772962 | Remapped | Perfect | NC_000011.10:g.(?_ 60732013)_(6176210 6_?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 60,732,013 | 61,762,106 |
nssv15772962 | Submitted genomic | NC_000011.9:g.(?_6 0499486)_(61529578 _?)dup | GRCh37 (hg19) | NC_000011.9 | Chr11 | 60,499,486 | 61,529,578 |
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 |
---|---|---|---|---|---|---|---|---|
nssv15772962 | GRCh37: NC_000011.9:g.(?_60499486)_(61529578_?)dup | copy number gain | unknown | not provided | Uncertain significance | ClinVar | RCV000848682.2, VCV000687991.2 | 3 |