A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594687



Internal ID16035410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:75228854..75577538hg38UCSC Ensembl
Innerchr4:76154064..76502748hg19UCSC Ensembl
Innerchr4:76373088..76721772hg18UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38348685
hg19348685
hg18348685
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1002364
Samples
Known GenesC4orf26, CDKL2, LOC441025, RCHY1, THAP6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594687
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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