nsv3113862
- 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:5,845
- 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: 336 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 336 SVs from 74 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3113862 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 189,647,214 | 189,653,058 |
nsv3113862 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 189,365,003 | 189,370,847 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14104311 | deletion | sample50 | Oligo aCGH | Probe signal intensity | 68 |
nssv14104520 | deletion | sample86 | Oligo aCGH | Probe signal intensity | 33 |
nssv14106478 | deletion | sample153 | Oligo aCGH | Probe signal intensity | 68 |
nssv14108333 | deletion | sample236 | Oligo aCGH | Probe signal intensity | 62 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14104311 | Remapped | Perfect | NC_000003.12:g.(?_ 189647214)_(189653 058_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,647,214 | 189,653,058 |
nssv14104520 | Remapped | Perfect | NC_000003.12:g.(?_ 189647214)_(189653 058_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,647,214 | 189,653,058 |
nssv14106478 | Remapped | Perfect | NC_000003.12:g.(?_ 189647214)_(189653 058_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,647,214 | 189,653,058 |
nssv14108333 | Remapped | Perfect | NC_000003.12:g.(?_ 189647214)_(189653 058_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 189,647,214 | 189,653,058 |
nssv14104311 | Submitted genomic | NC_000003.11:g.(?_ 189365003)_(189370 847_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,365,003 | 189,370,847 | ||
nssv14104520 | Submitted genomic | NC_000003.11:g.(?_ 189365003)_(189370 847_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,365,003 | 189,370,847 | ||
nssv14106478 | Submitted genomic | NC_000003.11:g.(?_ 189365003)_(189370 847_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,365,003 | 189,370,847 | ||
nssv14108333 | Submitted genomic | NC_000003.11:g.(?_ 189365003)_(189370 847_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 189,365,003 | 189,370,847 |