A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594577



Internal ID16381986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68585366..68678520hg38UCSC Ensembl
Innerchr4:69451084..69544238hg19UCSC Ensembl
Innerchr4:69133679..69226833hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3893155
hg1993155
hg1893155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv992776
Samples
Known GenesUGT2B15
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594577
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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