A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595356



Internal ID16036079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:121648885..121696533hg38UCSC Ensembl
Innerchr4:122570040..122617688hg19UCSC Ensembl
Innerchr4:122789490..122837138hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3847649
hg1947649
hg1847649
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1006136
Samples
Known GenesANXA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595356
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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