nsv462184
- 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:433,619
- 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: 1158 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 1158 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 54 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv462184 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 79,832,265 | 80,265,883 |
| nsv462184 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 80,297,950 | 80,731,568 |
| nsv462184 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 80,009,971 | 80,443,589 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv538407 | copy number gain | HGDP01308 | SNP array | SNP genotyping analysis | 3 | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv538407 | Remapped | Perfect | NC_000001.11:g.(?_ 79832265)_(8026588 3_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 79,832,265 | 80,265,883 |
| nssv538407 | Remapped | Perfect | NC_000001.10:g.(?_ 80297950)_(8073156 8_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 80,297,950 | 80,731,568 |
| nssv538407 | Submitted genomic | NC_000001.8:g.(?_8 0009971)_(80443589 _?)dup | NCBI35 (hg17) | NC_000001.8 | Chr1 | 80,009,971 | 80,443,589 |