nsv459244
- 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:250,703
- 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: 846 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 848 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 35 SVs from 4 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 |
---|---|---|---|---|---|---|---|---|---|
nsv459244 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 35,209,908 | 35,460,610 |
nsv459244 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000021.8 | Chr21 | 36,582,205 | 36,832,908 |
nsv459244 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000021.7 | Chr21 | 35,504,075 | 35,754,778 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv637387 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv637387 | Remapped | Perfect | NC_000021.9:g.(?_3 5209908)_(35460610 _?)dup | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 35,209,908 | 35,460,610 |
nssv637387 | Remapped | Perfect | NC_000021.8:g.(?_3 6582205)_(36832908 _?)dup | GRCh37.p13 | First Pass | NC_000021.8 | Chr21 | 36,582,205 | 36,832,908 |
nssv637387 | Submitted genomic | NC_000021.7:g.(?_3 5504075)_(35754778 _?)dup | NCBI35 (hg17) | NC_000021.7 | Chr21 | 35,504,075 | 35,754,778 |