A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3592239



Internal ID18543834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:43522577..43700374hg38UCSC Ensembl
Innerchr22:43918457..44096254hg19UCSC Ensembl
Innerchr22:42249790..42427587hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38177798
hg19177798
hg18177798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058659
Supporting Variants
Samples
Known GenesEFCAB6, EFCAB6-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3592239
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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