nsv469502
- Organism: Homo sapiens
- Study:nstd27 (Itsara et al. 2009)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:147,042
- Publication(s):Itsara et al. 2009
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: 828 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 828 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 5 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469502 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 84,095,800 | 84,242,841 |
| nsv469502 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 84,489,579 | 84,636,620 |
| nsv469502 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 82,992,047 | 83,139,088 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv645994 | copy number loss | SNP array | SNP genotyping analysis | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv645994 | Remapped | Perfect | NC_000012.12:g.(?_ 84095800)_(8424284 1_?)del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 84,095,800 | 84,242,841 |
| nssv645994 | Remapped | Perfect | NC_000012.11:g.(?_ 84489579)_(8463662 0_?)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 84,489,579 | 84,636,620 |
| nssv645994 | Submitted genomic | NC_000012.9:g.(?_8 2992047)_(83139088 _?)del | NCBI35 (hg17) | NC_000012.9 | Chr12 | 82,992,047 | 83,139,088 |