nsv932915
- Organism: Homo sapiens
- Study:nstd80 (Boone et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:321,786
- Publication(s):Boone et al. 2013
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: 1026 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 1026 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 22 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 |
---|---|---|---|---|---|---|---|---|---|
nsv932915 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 50,079,492 | 50,401,277 |
nsv932915 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 50,306,630 | 50,628,415 |
nsv932915 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 50,160,134 | 50,481,919 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv1614727 | deletion | 770 | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv1614727 | Remapped | Perfect | NC_000002.12:g.(50 067186_50079492)_( 50401277_50412368) del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 50,067,186 | 50,079,492 | 50,401,277 | 50,412,368 |
nssv1614727 | Remapped | Perfect | NC_000002.11:g.(50 294324_50306630)_( 50628415_50639506) del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 50,294,324 | 50,306,630 | 50,628,415 | 50,639,506 |
nssv1614727 | Submitted genomic | NC_000002.10:g.(50 147828_50160134)_( 50481919_50493010) del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 50,147,828 | 50,160,134 | 50,481,919 | 50,493,010 |