A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014822



Internal ID18757357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:190065059..190464556hg38UCSC Ensembl
Innerchr3:189782848..190182345hg19UCSC Ensembl
Innerchr3:191265542..191665039hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg38399498
hg19399498
hg18399498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3611328
Samples
Known GenesCLDN1, CLDN16, LEPREL1, TMEM207
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014822
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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