nsv1188199
- Organism: Homo sapiens
- Study:nstd113 (Polyak et al. 2015)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:382,300
- Publication(s):Polyak et al. 2015
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: 1278 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 1278 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 376 SVs from 25 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 |
---|---|---|---|---|---|---|---|---|---|
nsv1188199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 44,996,155 | 45,378,454 |
nsv1188199 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 44,996,257 | 45,378,556 |
nsv1188199 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 45,032,014 | 45,414,313 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv7459602 | copy number loss | 36793 | Oligo aCGH | Probe signal intensity | nssv7464642, nssv7468551, nssv7472948 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv7459602 | Remapped | Perfect | NC_000005.10:g.(?_ 44996155)_(4537845 4_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 44,996,155 | 45,378,454 |
nssv7459602 | Remapped | Perfect | NC_000005.9:g.(?_4 4996257)_(45378556 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 44,996,257 | 45,378,556 |
nssv7459602 | Submitted genomic | NC_000005.8:g.(?_4 5032014)_(45414313 _?)del | NCBI36 (hg18) | NC_000005.8 | Chr5 | 45,032,014 | 45,414,313 |