nsv870325
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:141,455
- Publication(s):Tüttelmann et al. 2011
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: 464 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 464 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 163 SVs from 15 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv870325 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 21,939,421 | 21,939,556 | 22,058,556 | 22,080,875 |
nsv870325 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 21,979,039 | 21,979,174 | 22,098,174 | 22,120,493 |
nsv870325 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 21,945,564 | 21,945,699 | 22,064,699 | 22,087,018 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv1497489 | copy number gain | CONTROL_02 | Oligo aCGH | Probe signal intensity | 9 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1497489 | Remapped | Perfect | NC_000007.14:g.(21 939421_21939556)_( 22058556_22080875) dup | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 21,939,421 | 21,939,556 | 22,058,556 | 22,080,875 |
nssv1497489 | Remapped | Perfect | NC_000007.13:g.(21 979039_21979174)_( 22098174_22120493) dup | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 21,979,039 | 21,979,174 | 22,098,174 | 22,120,493 |
nssv1497489 | Submitted genomic | NC_000007.12:g.(21 945564_21945699)_( 22064699_22087018) dup | NCBI36 (hg18) | NC_000007.12 | Chr7 | 21,945,564 | 21,945,699 | 22,064,699 | 22,087,018 |