nsv1042545
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:533,236
- Publication(s):Coe et al. 2014
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: 1537 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 1537 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 401 SVs from 21 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1042545 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 65,112,143 | 65,645,378 |
nsv1042545 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 65,686,275 | 66,219,510 |
nsv1042545 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 64,584,276 | 65,117,511 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3527913 | copy number loss | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv3527913 | Remapped | Perfect | NC_000013.11:g.(?_ 65112143)_(6564537 8_?)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 65,112,143 | 65,645,378 |
nssv3527913 | Remapped | Perfect | NC_000013.10:g.(?_ 65686275)_(6621951 0_?)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 65,686,275 | 66,219,510 |
nssv3527913 | Submitted genomic | NC_000013.9:g.(?_6 4584276)_(65117511 _?)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 64,584,276 | 65,117,511 |