A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595135



Internal ID16382544
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109433476..109434327hg38UCSC Ensembl
Innerchr4:110354632..110355483hg19UCSC Ensembl
Innerchr4:110574081..110574932hg18UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38852
hg19852
hg18852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9216n54
Supporting Variantsnssv1004260
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)nsv595135
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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