A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593250



Internal ID16033973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1086705..1087192hg38UCSC Ensembl
Innerchr4:1080493..1080980hg19UCSC Ensembl
Innerchr4:1070493..1070980hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38488
hg19488
hg18488
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8882n54
Supporting Variantsnssv987577, nssv987567, nssv987573, nssv987570, nssv987566, nssv987576, nssv987574, nssv987572, nssv987575, nssv987568, nssv987569, nssv987571
Samples
Known GenesRNF212
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593250
Frequency
Sample Size17421
Observed Gain8
Observed Loss4
Observed Complex0
Frequencyn/a


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