A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593268



Internal ID16033991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086870..1087362hg38UCSC Ensembl
Innerchr4:1080658..1081150hg19UCSC Ensembl
Innerchr4:1070658..1071150hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38493
hg19493
hg18493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8886n54
Supporting Variantsnssv987641, nssv987640
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593268
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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