A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595139



Internal ID16382548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109433535..109434271hg38UCSC Ensembl
Innerchr4:110354691..110355427hg19UCSC Ensembl
Innerchr4:110574140..110574876hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38737
hg19737
hg18737
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9216n54
Supporting Variantsnssv1004272, nssv1004270, nssv1004265, nssv1004269, nssv1004271, nssv1004266, nssv1004267, nssv1004268
Samples
Known GenesSEC24B, SEC24B-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595139
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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