A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014045



Internal ID18756577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56076751..56538345hg38UCSC Ensembl
Innerchr4:56942917..57404511hg19UCSC Ensembl
Innerchr4:56637674..57099268hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38461595
hg19461595
hg18461595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5213n100
Supporting Variantsnssv3625285
Samples
Known GenesAASDH, ARL9, KIAA1211, PAICS, PPAT, SRP72, THEGL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014045
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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