A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517421



Internal ID15444714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:42295290..42299142hg38UCSC Ensembl
Innerchr22:42691296..42695148hg19UCSC Ensembl
Innerchr22:41021240..41025092hg18UCSC Ensembl
Innerchr22:41015794..41019646hg17UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383853
hg193853
hg183853
hg173853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681062, nssv668156, nssv651970, nssv678623
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517421
Frequency
Sample Size2026
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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