nsv4375706
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:36,189
- 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: 1033 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1034 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4375706 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nsv4375706 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15617432 | copy number gain | 1-0844-004 | SNP array | Genotyping | 17 |
| nssv15666003 | copy number gain | 5-0030-002 | SNP array | Genotyping | 23 |
| nssv15666744 | copy number gain | 7-0108-003 | SNP array | Genotyping | 17 |
| nssv15677181 | copy number gain | 235974S | SNP array | Genotyping | 23 |
| nssv15679952 | copy number gain | 213676 | SNP array | Genotyping | 19 |
| nssv15691769 | copy number gain | OCD79-896721 | SNP array | Genotyping | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15617432 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15666003 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15666744 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15677181 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15679952 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15691769 | Remapped | Perfect | NC_000012.12:g.(?_ 11062881)_(1109906 9_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,062,881 | 11,099,069 |
| nssv15617432 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 | ||
| nssv15666003 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 | ||
| nssv15666744 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 | ||
| nssv15677181 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 | ||
| nssv15679952 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 | ||
| nssv15691769 | Submitted genomic | NC_000012.11:g.(?_ 11215480)_(1125166 8_?)dup | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,215,480 | 11,251,668 |