nsv3919468
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:73,063,773
- Description:NCBI36/hg18 15q13.1-26.3(chr15:26996912-30494175)x1 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: 194129 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 194308 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 52598 SVs from 40 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 | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3919468 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,917,417 | 101,981,189 | 101,981,189 |
| nsv3919468 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 29,209,620 | 102,521,392 | 102,521,392 |
| nsv3919468 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 26,996,912 | 30,494,175 | 100,338,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15127602 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000453624.2, VCV000401278.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15127602 | Remapped | Good | NC_000015.10:g.(?_ 28917417)_(1019811 89_101981189)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,917,417 | 101,981,189 | 101,981,189 |
| nssv15127602 | Remapped | Good | NC_000015.9:g.(?_2 9209620)_(10252139 2_102521392)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 29,209,620 | 102,521,392 | 102,521,392 |
| nssv15127602 | Submitted genomic | NC_000015.8:g.(?_2 6996912)_(30494175 _100338915)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 26,996,912 | 30,494,175 | 100,338,915 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15127602 | NCBI36: NC_000015.8:g.(?_26996912)_(30494175_100338915)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000453624.2, VCV000401278.2 | 1 |