A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600808



Internal ID18552403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:31401018..31525268hg38UCSC Ensembl
Innerchr22:31797004..31921254hg19UCSC Ensembl
Innerchr22:30127004..30251254hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38124251
hg19124251
hg18124251
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063634
Supporting Variants
Samples
Known GenesDRG1, EIF4ENIF1, SFI1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600808
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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