A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596996



Internal ID16037719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7359744..7447412hg38UCSC Ensembl
Innerchr5:7359857..7447525hg19UCSC Ensembl
Innerchr5:7412857..7500525hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3887669
hg1987669
hg1887669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023837
Samples
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596996
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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