nsv3111501
- 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:3,618
- 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: 437 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 437 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3111501 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 148,376,746 | 148,380,363 |
nsv3111501 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 148,073,838 | 148,077,455 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14083361 | deletion | sample91 | Oligo aCGH | Probe signal intensity | 90 |
nssv14084305 | deletion | sample147 | Oligo aCGH | Probe signal intensity | 78 |
nssv14084938 | deletion | sample389 | Oligo aCGH | Probe signal intensity | 21 |
nssv14086805 | deletion | sample358 | Oligo aCGH | Probe signal intensity | 77 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14083361 | Remapped | Perfect | NC_000007.14:g.(?_ 148376746)_(148380 363_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,376,746 | 148,380,363 |
nssv14084305 | Remapped | Perfect | NC_000007.14:g.(?_ 148376746)_(148380 363_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,376,746 | 148,380,363 |
nssv14084938 | Remapped | Perfect | NC_000007.14:g.(?_ 148376746)_(148380 363_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,376,746 | 148,380,363 |
nssv14086805 | Remapped | Perfect | NC_000007.14:g.(?_ 148376746)_(148380 363_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 148,376,746 | 148,380,363 |
nssv14083361 | Submitted genomic | NC_000007.13:g.(?_ 148073838)_(148077 455_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 148,073,838 | 148,077,455 | ||
nssv14084305 | Submitted genomic | NC_000007.13:g.(?_ 148073838)_(148077 455_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 148,073,838 | 148,077,455 | ||
nssv14084938 | Submitted genomic | NC_000007.13:g.(?_ 148073838)_(148077 455_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 148,073,838 | 148,077,455 | ||
nssv14086805 | Submitted genomic | NC_000007.13:g.(?_ 148073838)_(148077 455_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 148,073,838 | 148,077,455 |