nsv3111003
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,155
- Publication(s):Lu et al. 2017
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: 893 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 893 SVs from 80 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3111003 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,603,101 |
nsv3111003 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000020.10 | Chr20 | 1,561,593 | 1,583,747 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14099705 | deletion | sample38 | Oligo aCGH | Probe signal intensity | 92 |
nssv14099904 | deletion | sample189 | Oligo aCGH | Probe signal intensity | 59 |
nssv14099979 | deletion | sample241 | Oligo aCGH | Probe signal intensity | 59 |
nssv14100637 | deletion | sample271 | Oligo aCGH | Probe signal intensity | 66 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14099705 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1603101_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,603,101 |
nssv14099904 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1603101_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,603,101 |
nssv14099979 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1603101_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,603,101 |
nssv14100637 | Remapped | Perfect | NC_000020.11:g.(?_ 1580947)_(1603101_ ?)del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 1,580,947 | 1,603,101 |
nssv14099705 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1583747_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,583,747 | ||
nssv14099904 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1583747_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,583,747 | ||
nssv14099979 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1583747_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,583,747 | ||
nssv14100637 | Submitted genomic | NC_000020.10:g.(?_ 1561593)_(1583747_ ?)del | GRCh37 (hg19) | NC_000020.10 | Chr20 | 1,561,593 | 1,583,747 |