nsv7148080
- 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:1,792,053
- Description:GRCh37/hg19 2q13(chr2:111335152-113127204)x1 AND 2q13 microdeletion syndrome
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4162 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4162 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7148080 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 110,577,575 | 112,369,627 |
| nsv7148080 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 111,335,152 | 113,127,204 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv18842008 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV003329523.1, VCV002580318.1 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18842008 | Remapped | Perfect | NC_000002.12:g.(?_ 110577575)_(112369 627_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 110,577,575 | 112,369,627 |
| nssv18842008 | Submitted genomic | NC_000002.11:g.(?_ 111335152)_(113127 204_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 111,335,152 | 113,127,204 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv18842008 | GRCh37: NC_000002.11:g.(?_111335152)_(113127204_?)del | copy number loss | paternal | See cases | Pathogenic | ClinVar | RCV003329523.1, VCV002580318.1 | 1 |