A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593243



Internal ID16033966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086569..1093743hg38UCSC Ensembl
Innerchr4:1080357..1087531hg19UCSC Ensembl
Innerchr4:1070357..1077531hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg387175
hg197175
hg187175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8881n54
Supporting Variantsnssv987503
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593243
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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