A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv999639



Internal ID18812489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56076751..56535144hg38UCSC Ensembl
Innerchr4:56942917..57401310hg19UCSC Ensembl
Innerchr4:56637674..57096067hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38458394
hg19458394
hg18458394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5213n100
Supporting Variantsnssv3625284
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)nsv999639
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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