A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595140



Internal ID16382549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109433535..109434327hg38UCSC Ensembl
Innerchr4:110354691..110355483hg19UCSC Ensembl
Innerchr4:110574140..110574932hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38793
hg19793
hg18793
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9216n54
Supporting Variantsnssv1004275, nssv1004273, nssv1004274
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)nsv595140
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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