A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3723120



Internal ID18674715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:67133808..67550267hg38UCSC Ensembl
Innerchr18:64801045..65217504hg19UCSC Ensembl
Innerchr18:62952025..63368484hg18UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38416460
hg19416460
hg18416460
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064940
Supporting Variants
Samples
Known GenesDSEL, LOC643542
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3723120
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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