A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029647



Internal ID18772178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:183268304..183372226hg38UCSC Ensembl
Innerchr4:184189457..184293379hg19UCSC Ensembl
Innerchr4:184426451..184530373hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38103923
hg19103923
hg18103923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3635604
Samples
Known GenesCLDN22, CLDN24, WWC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029647
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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