nsv432919
- 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:348,144
- 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: 867 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 52 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv432919 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 69,163,287 | 69,511,430 |
| nsv432919 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 69,873,179 | 70,221,322 |
| nsv432919 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000006.9 | Chr6 | 69,929,900 | 70,278,043 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv559572 | copy number gain | 60826 | Merging, SNP array | Merging, SNP genotyping analysis | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv559572 | Remapped | Perfect | NC_000006.12:g.(?_ 69163287)_(6951143 0_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 69,163,287 | 69,511,430 |
| nssv559572 | Remapped | Perfect | NC_000006.11:g.(?_ 69873179)_(7022132 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 69,873,179 | 70,221,322 |
| nssv559572 | Submitted genomic | NC_000006.9:g.(?_6 9929900)_(70278043 _?)dup | NCBI35 (hg17) | NC_000006.9 | Chr6 | 69,929,900 | 70,278,043 |