A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593208



Internal ID16033931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:674211..688444hg38UCSC Ensembl
Innerchr4:668000..682233hg19UCSC Ensembl
Innerchr4:658000..672233hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3814234
hg1914234
hg1814234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv987412
Samples
Known GenesATP5I, MFSD7, MYL5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593208
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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