nsv2744364
- 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:2,180,073
- 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: 12246 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 12246 SVs from 121 studies. See in: genome view
Overlapping variant regions from other studies: 3499 SVs from 35 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 |
---|---|---|---|---|---|---|---|---|---|
nsv2744364 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 520,623 | 2,700,695 |
nsv2744364 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 570,623 | 2,750,696 |
nsv2744364 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 510,624 | 2,690,697 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv13599673 | deletion | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv13599673 | Remapped | Perfect | NC_000016.10:g.(?_ 520623)_(2700695_? )del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 520,623 | 2,700,695 |
nssv13599673 | Remapped | Perfect | NC_000016.9:g.(?_5 70623)_(2750696_?) del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 570,623 | 2,750,696 |
nssv13599673 | Submitted genomic | NC_000016.8:g.(?_5 10624)_(2690697_?) del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 510,624 | 2,690,697 |