nsv3915210
- 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:71,853,568
- Description:NCBI36/hg18 15q13.2-26.3(chr15:28207117-30420592)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: 191042 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 191220 SVs from 151 studies. See in: genome view
Overlapping variant regions from other studies: 51785 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 |
---|---|---|---|---|---|---|---|---|---|---|
nsv3915210 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 30,127,622 | 101,981,189 | 101,981,189 |
nsv3915210 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 30,419,825 | 102,521,392 | 102,521,392 |
nsv3915210 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000015.8 | Chr15 | 28,207,117 | 30,420,592 | 100,338,915 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
---|---|---|---|---|---|---|---|---|
nssv15128162 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000452450.2, VCV000400026.2 | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|
nssv15128162 | Remapped | Good | NC_000015.10:g.(?_ 30127622)_(1019811 89_101981189)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 30,127,622 | 101,981,189 | 101,981,189 |
nssv15128162 | Remapped | Good | NC_000015.9:g.(?_3 0419825)_(10252139 2_102521392)dup | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 30,419,825 | 102,521,392 | 102,521,392 |
nssv15128162 | Submitted genomic | NC_000015.8:g.(?_2 8207117)_(30420592 _100338915)dup | NCBI36 (hg18) | NC_000015.8 | Chr15 | 28,207,117 | 30,420,592 | 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 |
---|---|---|---|---|---|---|---|---|
nssv15128162 | NCBI36: NC_000015.8:g.(?_28207117)_(30420592_100338915)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000452450.2, VCV000400026.2 | 3 |