A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600794



Internal ID18552389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:29458872..29493212hg38UCSC Ensembl
Innerchr22:29854861..29889201hg19UCSC Ensembl
Innerchr22:28184861..28219201hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3834341
hg1934341
hg1834341
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062039
Supporting Variants
Samples
Known GenesNEFH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600794
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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