nsv7148056
- 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:37,219,617
- Description:GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)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: 91007 SVs from 136 studies. See in: genome view
Overlapping variant regions from other studies: 91011 SVs from 136 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148056 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 185,833,777 | 223,053,393 |
| nsv7148056 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 186,698,504 | 223,918,111 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842075 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003329558.1, VCV002580353.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842075 | Remapped | Perfect | NC_000002.12:g.(?_ 185833777)_(223053 393_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 185,833,777 | 223,053,393 |
| nssv18842075 | Submitted genomic | NC_000002.11:g.(?_ 186698504)_(223918 111_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 186,698,504 | 223,918,111 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842075 | GRCh37: NC_000002.11:g.(?_186698504)_(223918111_?)dup | copy number gain | de novo | See cases | Pathogenic | ClinVar | RCV003329558.1, VCV002580353.1 | 3 |