nsv4381042
- 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:22,163
- 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: 578 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 578 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4381042 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nsv4381042 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nsv4381042 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15627341 | copy number loss | 1-0059-001 | SNP array | Genotyping | 16 |
| nssv15632057 | copy number loss | 10-0009-002 | SNP array | Genotyping | 21 |
| nssv15636825 | copy number loss | 13-0161-002 | SNP array | Genotyping | 20 |
| nssv15673858 | copy number loss | 9-0024-002 | SNP array | Genotyping | 28 |
| nssv15680246 | copy number loss | 222688 | SNP array | Genotyping | 20 |
| nssv15699042 | copy number loss | 194735 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15627341 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15632057 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15636825 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15673858 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15680246 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15699042 | Remapped | Perfect | NW_018654718.1:g.( ?_468919)_(491081_ ?)del | GRCh38.p12 | Second Pass | NW_018654718.1 | Chr12|NW_0 18654718.1 | 468,919 | 491,081 |
| nssv15627341 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15632057 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15636825 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15673858 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15680246 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15699042 | Remapped | Perfect | NC_000012.12:g.(?_ 2126775)_(2148937_ ?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 2,126,775 | 2,148,937 |
| nssv15627341 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 | ||
| nssv15632057 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 | ||
| nssv15636825 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 | ||
| nssv15673858 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 | ||
| nssv15680246 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 | ||
| nssv15699042 | Submitted genomic | NC_000012.11:g.(?_ 2235941)_(2258103_ ?)del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 2,235,941 | 2,258,103 |