A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008716



Internal ID18751247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:21578800..21632013hg38UCSC Ensembl
Innerchr4:21580423..21633636hg19UCSC Ensembl
Innerchr4:21189521..21242734hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3853214
hg1953214
hg1853214
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5154n100
Supporting Variantsnssv3737711
Samples
Known GenesKCNIP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008716
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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