A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591312



Internal ID16378721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:113947504..113948442hg38UCSC Ensembl
Innerchr3:113666351..113667289hg19UCSC Ensembl
Innerchr3:115149041..115149979hg18UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg38939
hg19939
hg18939
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv971545, nssv971544
Samples
Known GenesZDHHC23
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591312
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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