A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052334



Internal ID18794865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:772982..900929hg38UCSC Ensembl
Innerchr11:772982..900929hg19UCSC Ensembl
Innerchr11:762982..890929hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38127948
hg19127948
hg18127948
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1013n100
Supporting Variantsnssv3521299, nssv3514552, nssv3503731
Samples
Known GenesCD151, CEND1, CHID1, EFCAB4A, NS3BP, PDDC1, 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)nsv1052334
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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