nsv6635319
- Organism: Homo sapiens
- Study:nstd227 (Kikas et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:90,482
- Publication(s):Kikas et al. 2023
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: 467 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 467 SVs from 64 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nsv6635319 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 44,355,671 | 44,446,152 |
nsv6635319 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 44,824,874 | 44,915,355 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv18327401 | duplication | SNP array | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
---|---|---|---|---|---|---|---|---|---|
nssv18327401 | Remapped | Perfect | NC_000014.9:g.(443 55671_?)_(?_444461 52)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 44,355,671 | 44,446,152 |
nssv18327401 | Submitted genomic | NC_000014.8:g.(448 24874_?)_(?_449153 55)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 44,824,874 | 44,915,355 |