A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1029507



Internal ID19118726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113580701..113610295hg38UCSC Ensembl
Innerchr5:112916398..112945992hg19UCSC Ensembl
Innerchr5:112944297..112973891hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3829595
hg1929595
hg1829595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5783n100
Supporting Variantsnssv3647065, nssv3647064, nssv3647066, nssv3647063
Samples
Known GenesYTHDC2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1029507
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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