nsv932772
- Organism: Homo sapiens
- Study:nstd79 (Dittwald et al. 2013)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,611,230
- Publication(s):Dittwald 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: 4155 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 4156 SVs from 114 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv932772 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 108,493,301 | 108,493,301 | 110,104,530 | 110,104,530 |
| nsv932772 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 109,109,757 | 109,218,267 | 110,431,363 | 110,862,107 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv1611360 | deletion | 1693 | Oligo aCGH | Probe signal intensity |
| nssv1612214 | duplication | 1985 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1611360 | Remapped | Pass | NC_000002.12:g.(10 8489946_108489946) _(110067380_110067 380)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 108,489,946 | 108,489,946 | 110,067,380 | 110,067,380 |
| nssv1612214 | Remapped | Pass | NC_000002.12:g.(10 8489946_108489946) _(110067380_110067 380)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 108,489,946 | 108,489,946 | 110,067,380 | 110,067,380 |
| nssv1611360 | Submitted genomic | NC_000002.11:g.(10 9106402_109223338) _(110463099_110824 957)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 109,106,402 | 109,223,338 | 110,463,099 | 110,824,957 | ||
| nssv1612214 | Submitted genomic | NC_000002.11:g.(10 9106402_109223338) _(110463099_110824 957)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 109,106,402 | 109,223,338 | 110,463,099 | 110,824,957 |