nsv3169725
- Organism: Homo sapiens
- Study:nstd156 (Fu et al. 2018)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:79,503
- Publication(s):Fu et al. 2018
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: 1170 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 1170 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 320 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3169725 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 97,141,095 | 97,141,095 | 97,220,597 | 97,220,597 |
| nsv3169725 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 97,806,832 | 97,806,832 | 97,886,334 | 97,886,334 |
| nsv3169725 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 97,170,559 | 97,180,162 | 97,240,900 | 97,250,052 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv14252541 | duplication | NGO_13 | SNP array | SNP genotyping analysis | 3 | 109 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14252541 | Remapped | Good | NC_000002.12:g.(97 141095_97141095)_( 97220597_97220597) dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 97,141,095 | 97,141,095 | 97,220,597 | 97,220,597 |
| nssv14252541 | Remapped | Good | NC_000002.11:g.(97 806832_97806832)_( 97886334_97886334) dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 97,806,832 | 97,806,832 | 97,886,334 | 97,886,334 |
| nssv14252541 | Submitted genomic | NC_000002.10:g.(97 170559_97180162)_( 97240900_97250052) dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 97,170,559 | 97,180,162 | 97,240,900 | 97,250,052 |