A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592241



Internal ID18890522
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 StatusS
Merged Variantsnsv1065594
Supporting Variants
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)nssv3592241
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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