A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523443



Internal ID18821724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:48397374..48412896hg38UCSC Ensembl
Innerchr13:48971510..48987032hg19UCSC Ensembl
Innerchr13:47869511..47885033hg18UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3815523
hg1915523
hg1815523
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1050786
Supporting Variants
Samples
Known GenesLPAR6, RB1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523443
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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