A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519651



Internal ID15100258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29254916..29255004hg38UCSC Ensembl
Innerchr22:29650905..29650993hg19UCSC Ensembl
Innerchr22:27980905..27980993hg18UCSC Ensembl
Innerchr22:27975459..27975547hg17UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3889
hg1989
hg1889
hg1789
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694340
Samples
Known GenesEMID1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519651
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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