A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040044



Internal ID18782575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:776335..900929hg38UCSC Ensembl
Innerchr11:776335..900929hg19UCSC Ensembl
Innerchr11:766335..890929hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38124595
hg19124595
hg18124595
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3511403, nssv3504810, nssv3518982, nssv3522109
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)nsv1040044
Frequency
Sample Size29084
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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