A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596998



Internal ID16384407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7396313..7398433hg38UCSC Ensembl
Innerchr5:7396426..7398546hg19UCSC Ensembl
Innerchr5:7449426..7451546hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg382121
hg192121
hg182121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023839
Samples
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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