nsv430603
- Organism: Homo sapiens
- Study:nstd12 (Marshall et al. 2008)
- Variant Type:copy number variation
- Method Type:Merging, SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:185,001
- Publication(s):Marshall 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: 793 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 793 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430603 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 105,721,650 | 105,906,650 |
| nsv430603 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 106,373,999 | 106,558,999 |
| nsv430603 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 105,172,000 | 105,357,000 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv562036 | copy number gain | 68687 | Merging, SNP array | Merging, SNP genotyping analysis | nssv559826, nssv561019 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv562036 | Remapped | Perfect | NC_000013.11:g.(?_ 105721650)_(105906 650_?)dup | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 105,721,650 | 105,906,650 |
| nssv562036 | Remapped | Perfect | NC_000013.10:g.(?_ 106373999)_(106558 999_?)dup | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 106,373,999 | 106,558,999 |
| nssv562036 | Submitted genomic | NC_000013.9:g.(?_1 05172000)_(1053570 00_?)dup | NCBI35 (hg17) | NC_000013.9 | Chr13 | 105,172,000 | 105,357,000 |