nsv817612
- Organism: Homo sapiens
- Study:nstd58 (Forsberg et al. 2012)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:14,293,908
- Publication(s):Forsberg et al. 2012
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: 38238 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 38240 SVs from 126 studies. See in: genome view
Overlapping variant regions from other studies: 9059 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv817612 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 31,996,213 | 31,996,213 | 46,290,120 | 46,290,120 |
| nsv817612 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 30,584,016 | 30,584,016 | 44,918,759 | 44,918,759 |
| nsv817612 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 30,047,677 | 30,506,009 | 44,328,693 | 44,352,166 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1415556 | copy number loss | 340 | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1415556 | Remapped | Good | NC_000020.11:g.(31 996213_31996213)_( 46290120_46290120) del | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 31,996,213 | 31,996,213 | 46,290,120 | 46,290,120 |
| nssv1415556 | Remapped | Good | NC_000020.10:g.(30 584016_30584016)_( 44918759_44918759) del | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 30,584,016 | 30,584,016 | 44,918,759 | 44,918,759 |
| nssv1415556 | Submitted genomic | NC_000020.9:g.(300 47677_30506009)_(4 4328693_44352166)d el | NCBI36 (hg18) | NC_000020.9 | Chr20 | 30,047,677 | 30,506,009 | 44,328,693 | 44,352,166 |