A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3503002



Internal ID18454597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:796542..922454hg38UCSC Ensembl
Innerchr11:796542..922454hg19UCSC Ensembl
Innerchr11:786542..912454hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38125913
hg19125913
hg18125913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036491
Supporting Variants
Samples
Known GenesCD151, CHID1, EFCAB4A, PIDD, PNPLA2, POLR2L, RPLP2, SLC25A22, SNORA52, TSPAN4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3503002
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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