nsv3116586
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:22,756
- 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: 922 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 922 SVs from 83 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3116586 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nsv3116586 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14092122 | deletion | sample216 | Oligo aCGH | Probe signal intensity | 96 |
nssv14093462 | deletion | sample294 | Oligo aCGH | Probe signal intensity | 47 |
nssv14093517 | deletion | sample304 | Oligo aCGH | Probe signal intensity | 87 |
nssv14093662 | deletion | sample334 | Oligo aCGH | Probe signal intensity | 36 |
nssv14094752 | deletion | sample367 | Oligo aCGH | Probe signal intensity | 31 |
nssv14107177 | deletion | sample14 | Oligo aCGH | Probe signal intensity | 61 |
nssv14107390 | deletion | sample50 | Oligo aCGH | Probe signal intensity | 68 |
nssv14107430 | duplication | sample57 | Oligo aCGH | Probe signal intensity | 34 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14092122 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14093462 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14093517 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14093662 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14094752 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14107177 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14107390 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14107430 | Remapped | Perfect | NC_000004.12:g.(?_ 10209794)_(1023254 9_?)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 10,209,794 | 10,232,549 |
nssv14092122 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14093462 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14093517 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14093662 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14094752 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14107177 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14107390 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 | ||
nssv14107430 | Submitted genomic | NC_000004.11:g.(?_ 10211418)_(1023417 3_?)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 10,211,418 | 10,234,173 |