nsv3170328
- Organism: Homo sapiens
- Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
- Variant Type:copy number variation
- Method Type:
- Submitted on:GRCh37 (hg19)
- Variant Calls:0
- Validation:Not tested
- Clinical Assertions: No
- Region Size:258,379
- Description:
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) - Publication(s):Riggs et al. 2011
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 1593 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 583 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 1826 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3170328 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 22,782,171 | 23,040,549 |
| nsv3170328 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 137,251 |
| nsv3170328 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 22,832,519 | 23,090,897 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|---|
| nssv14252570 | copy number gain | Curated | Curated | No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms | Benign | ClinGen Dosage Sensitivity Map | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14252570 | Remapped | Pass | NT_187603.1:g.(?_1 )_(137251_?)dup | GRCh38.p12 | Second Pass | NT_187603.1 | Chr15|NT_1 87603.1 | 1 | 137,251 |
| nssv14252570 | Remapped | Perfect | NC_000015.10:g.(?_ 22782171)_(2304054 9_?)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 22,782,171 | 23,040,549 |
| nssv14252570 | Submitted genomic | NC_000015.9:g.(?_2 2832519)_(23090897 _?)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 22,832,519 | 23,090,897 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Subject Phenotype | Clinical Interpretation | Source of Interpretation | Copy number |
|---|---|---|---|---|---|---|
| nssv14252570 | GRCh37: NC_000015.9:g.(?_22832519)_(23090897_?)dup | copy number gain | No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms | Benign | ClinGen Dosage Sensitivity Map | 3 |