A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035248



Internal ID18777779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113454525..113505449hg38UCSC Ensembl
Innerchr13:114108840..114159764hg19UCSC Ensembl
Innerchr13:113156841..113207765hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3850925
hg1950925
hg1850925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525636
Samples
Known GenesDCUN1D2, TMCO3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1035248
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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