nsv4386315
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:42,094
- Publication(s):Zarrei et al. 2019
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: 1219 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1224 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386315 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nsv4386315 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15612013 | copy number loss | 1-0013-003 | SNP array | Genotyping | 27 |
| nssv15612448 | copy number loss | 1-0670-003 | SNP array | Genotyping | 11 |
| nssv15615014 | copy number loss | 1-0730-003 | SNP array | Genotyping | 18 |
| nssv15624756 | copy number loss | 1-0403-002 | SNP array | Genotyping | 23 |
| nssv15628967 | copy number loss | 1-0546-002 | SNP array | Genotyping | 22 |
| nssv15642955 | copy number loss | 15-1131-001 | SNP array | Genotyping | 19 |
| nssv15642996 | copy number loss | 15-1131-003 | SNP array | Genotyping | 26 |
| nssv15643041 | copy number loss | 14-0325-001 | SNP array | Genotyping | 29 |
| nssv15650399 | copy number loss | 2-1478-001 | SNP array | Genotyping | 16 |
| nssv15653554 | copy number loss | 2-1595-001 | SNP array | Genotyping | 24 |
| nssv15666782 | copy number loss | 7-0111-003 | SNP array | Genotyping | 23 |
| nssv15682993 | copy number loss | OCD122-B_1637 | SNP array | Genotyping | 19 |
| nssv15684911 | copy number loss | OCD15-B_SN-1466 | SNP array | Genotyping | 16 |
| nssv15686488 | copy number loss | OCD15-B_JN-1467 | SNP array | Genotyping | 24 |
| nssv15686668 | copy number loss | OCD16-B_CW-1426 | SNP array | Genotyping | 21 |
| nssv15694006 | copy number loss | 79220 | SNP array | Genotyping | 14 |
| nssv15699016 | copy number loss | 188858 | SNP array | Genotyping | 23 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15612013 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15612448 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15615014 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15624756 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15628967 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15642955 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15642996 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15643041 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15650399 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15653554 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15666782 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15682993 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15684911 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15686488 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15686668 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15694006 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15699016 | Remapped | Perfect | NC_000001.11:g.(?_ 248589883)_(248631 976_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 248,589,883 | 248,631,976 |
| nssv15612013 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15612448 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15615014 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15624756 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15628967 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15642955 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15642996 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15643041 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15650399 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15653554 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15666782 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15682993 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15684911 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15686488 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15686668 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15694006 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 | ||
| nssv15699016 | Submitted genomic | NC_000001.10:g.(?_ 248753184)_(248795 277_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 248,753,184 | 248,795,277 |