A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046092



Internal ID18788623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:94100280..94231286hg38UCSC Ensembl
Innerchr11:93833446..93964452hg19UCSC Ensembl
Innerchr11:93473094..93604100hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38131007
hg19131007
hg18131007
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517754
Samples
Known GenesHEPHL1, PANX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046092
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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