nsv430507
- 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:195,575
- 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: 597 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 597 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 51 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv430507 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 47,490,150 | 47,685,724 |
| nsv430507 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 47,883,933 | 48,079,507 |
| nsv430507 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000012.9 | Chr12 | 46,170,200 | 46,365,774 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv561760 | copy number gain | 81155 | Merging, SNP array | Merging, SNP genotyping analysis | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv561760 | Remapped | Perfect | NC_000012.12:g.(?_ 47490150)_(4768572 4_?)dup | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 47,490,150 | 47,685,724 |
| nssv561760 | Remapped | Perfect | NC_000012.11:g.(?_ 47883933)_(4807950 7_?)dup | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 47,883,933 | 48,079,507 |
| nssv561760 | Submitted genomic | NC_000012.9:g.(?_4 6170200)_(46365774 _?)dup | NCBI35 (hg17) | NC_000012.9 | Chr12 | 46,170,200 | 46,365,774 |