A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053425



Internal ID18795956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:114539109..114737646hg38UCSC Ensembl
Innerchr11:114409831..114608368hg19UCSC Ensembl
Innerchr11:113915041..114113578hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38198538
hg19198538
hg18198538
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3522456
Samples
Known GenesNXPE1, NXPE2, NXPE4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053425
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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