nsv2744107
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:4,177,673
- Publication(s):Leppa et al. 2016
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: 21317 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 21318 SVs from 130 studies. See in: genome view
Overlapping variant regions from other studies: 5771 SVs from 37 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2744107 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 163,367 | 4,341,039 |
| nsv2744107 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 213,366 | 4,391,040 |
| nsv2744107 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 153,366 | 4,331,041 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13548969 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv13548969 | Remapped | Perfect | NC_000016.10:g.(?_ 163367)_(4341039_? )dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 163,367 | 4,341,039 |
| nssv13548969 | Remapped | Perfect | NC_000016.9:g.(?_2 13366)_(4391040_?) dup | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 213,366 | 4,391,040 |
| nssv13548969 | Submitted genomic | NC_000016.8:g.(?_1 53366)_(4331041_?) dup | NCBI36 (hg18) | NC_000016.8 | Chr16 | 153,366 | 4,331,041 |