nsv471090
- 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:136,865
- 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: 330 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 330 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv471090 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 61,148,438 | 61,285,302 |
| nsv471090 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 61,182,342 | 61,319,206 |
| nsv471090 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000016.8 | Chr16 | 59,739,843 | 59,876,707 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|---|
| nssv545328 | copy number loss | HGDP00649 | SNP array | SNP genotyping analysis | 1 | Heterozygous | 7 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv545328 | Remapped | Perfect | NC_000016.10:g.(?_ 61148438)_(6128530 2_?)del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 61,148,438 | 61,285,302 |
| nssv545328 | Remapped | Perfect | NC_000016.9:g.(?_6 1182342)_(61319206 _?)del | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 61,182,342 | 61,319,206 |
| nssv545328 | Submitted genomic | NC_000016.8:g.(?_5 9739843)_(59876707 _?)del | NCBI36 (hg18) | NC_000016.8 | Chr16 | 59,739,843 | 59,876,707 |