nsv3918644
- 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:78,661,476
- Description:NCBI36/hg18 15q11.2-26.3(chr15:20313935-20638993)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: 213082 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 216799 SVs from 153 studies. See in: genome view
Overlapping variant regions from other studies: 58924 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv3918644 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 101,981,189 | 101,981,189 |
| nsv3918644 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 22,762,571 | 102,521,392 | 102,521,392 |
| nsv3918644 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 20,313,935 | 20,638,993 | 100,338,915 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15124620 | copy number loss | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449848.2, VCV000399079.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv15124620 | Remapped | Good | NC_000015.10:g.(?_ 23319714)_(1019811 89_101981189)del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 23,319,714 | 101,981,189 | 101,981,189 |
| nssv15124620 | Remapped | Good | NC_000015.9:g.(?_2 2762571)_(10252139 2_102521392)del | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 22,762,571 | 102,521,392 | 102,521,392 |
| nssv15124620 | Submitted genomic | NC_000015.8:g.(?_2 0313935)_(20638993 _100338915)del | NCBI36 (hg18) | NC_000015.8 | Chr15 | 20,313,935 | 20,638,993 | 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 |
|---|---|---|---|---|---|---|---|---|
| nssv15124620 | NCBI36: NC_000015.8:g.(?_20313935)_(20638993_100338915)del | copy number loss | not provided | See cases | Uncertain significance | ClinVar | RCV000449848.2, VCV000399079.2 | 1 |