nsv469948
- Organism: Homo sapiens
- Study:nstd30 (Jakobsson et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:166,451
- Publication(s):Jakobsson et al. 2008
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: 712 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 712 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 21 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv469948 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 25,838,236 | 26,004,686 |
| nsv469948 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 25,859,783 | 26,026,233 |
| nsv469948 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 25,816,359 | 25,982,809 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv546094 | copy number loss | HGDP01271 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 8 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv546094 | Remapped | Perfect | NC_000011.10:g.(?_ 25838236)_(2600468 6_?)del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 25,838,236 | 26,004,686 |
| nssv546094 | Remapped | Perfect | NC_000011.9:g.(?_2 5859783)_(26026233 _?)del | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 25,859,783 | 26,026,233 |
| nssv546094 | Submitted genomic | NC_000011.8:g.(?_2 5816359)_(25982809 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 25,816,359 | 25,982,809 |