A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065594



Internal ID19154813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43676566..43711408hg38UCSC Ensembl
Innerchr22:44072446..44107288hg19UCSC Ensembl
Innerchr22:42403779..42438621hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3834843
hg1934843
hg1834843
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3592241
Samples
Known GenesEFCAB6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065594
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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