A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593650



Internal ID16381059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9369390..9484932hg38UCSC Ensembl
Innerchr4:9371116..9486579hg19UCSC Ensembl
Innerchr4:8980214..9095677hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38115543
hg19115464
hg18115464
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8958n54
Supporting Variantsnssv991261
Samples
Known GenesDEFB131, LOC650293
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593650
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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