nsv3110249
- Organism: Homo sapiens
- Study:nstd145 (Lu et al. 2017)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,264
- 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: 349 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 47 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3110249 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nsv3110249 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14090705 | deletion | sample186 | Oligo aCGH | Probe signal intensity | 82 |
nssv14092224 | deletion | sample235 | Oligo aCGH | Probe signal intensity | 64 |
nssv14093417 | deletion | sample287 | Oligo aCGH | Probe signal intensity | 79 |
nssv14094691 | deletion | sample359 | Oligo aCGH | Probe signal intensity | 103 |
nssv14094801 | deletion | sample373 | Oligo aCGH | Probe signal intensity | 100 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14090705 | Remapped | Perfect | NC_000004.12:g.(?_ 9184424)_(9209687_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nssv14092224 | Remapped | Perfect | NC_000004.12:g.(?_ 9184424)_(9209687_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nssv14093417 | Remapped | Perfect | NC_000004.12:g.(?_ 9184424)_(9209687_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nssv14094691 | Remapped | Perfect | NC_000004.12:g.(?_ 9184424)_(9209687_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nssv14094801 | Remapped | Perfect | NC_000004.12:g.(?_ 9184424)_(9209687_ ?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 9,184,424 | 9,209,687 |
nssv14090705 | Submitted genomic | NC_000004.11:g.(?_ 9186150)_(9211413_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 | ||
nssv14092224 | Submitted genomic | NC_000004.11:g.(?_ 9186150)_(9211413_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 | ||
nssv14093417 | Submitted genomic | NC_000004.11:g.(?_ 9186150)_(9211413_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 | ||
nssv14094691 | Submitted genomic | NC_000004.11:g.(?_ 9186150)_(9211413_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 | ||
nssv14094801 | Submitted genomic | NC_000004.11:g.(?_ 9186150)_(9211413_ ?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 9,186,150 | 9,211,413 |