nsv817614
- 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:1,154,490
- 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: 3294 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 3294 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1014 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv817614 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 54,580,862 | 54,604,313 | 55,692,280 | 55,735,351 |
| nsv817614 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 55,046,535 | 55,069,986 | 56,157,953 | 56,201,024 |
| nsv817614 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 54,819,123 | 54,842,574 | 55,930,541 | 55,973,612 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1415558 | copy number gain | 102 | SNP array | SNP genotyping analysis | nssv1415559 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1415558 | Remapped | Perfect | NC_000001.11:g.(54 580862_54604313)_( 55692280_55735351) dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 54,580,862 | 54,604,313 | 55,692,280 | 55,735,351 |
| nssv1415558 | Remapped | Perfect | NC_000001.10:g.(55 046535_55069986)_( 56157953_56201024) dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 55,046,535 | 55,069,986 | 56,157,953 | 56,201,024 |
| nssv1415558 | Submitted genomic | NC_000001.9:g.(548 19123_54842574)_(5 5930541_55973612)d up | NCBI36 (hg18) | NC_000001.9 | Chr1 | 54,819,123 | 54,842,574 | 55,930,541 | 55,973,612 |