nsv499236
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,337
- Publication(s):Kidd et al. 2010
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: 243 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 243 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 18 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv499236 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000020.11 | Chr20 | 47,894,731 | 47,896,067 |
nsv499236 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000020.10 | Chr20 | 46,523,475 | 46,524,811 |
nsv499236 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000020.9 | Chr20 | 45,956,882 | 45,958,218 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv585616 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv585616 | Remapped | Perfect | NC_000020.11:g.478 94731_47896067dup | GRCh38.p12 | First Pass | NC_000020.11 | Chr20 | 47,894,731 | 47,896,067 |
nssv585616 | Remapped | Perfect | NC_000020.10:g.465 23475_46524811dup | GRCh37.p13 | First Pass | NC_000020.10 | Chr20 | 46,523,475 | 46,524,811 |
nssv585616 | Submitted genomic | NC_000020.9:g.4595 6882_45958218dup | NCBI36 (hg18) | NC_000020.9 | Chr20 | 45,956,882 | 45,958,218 |