A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv590685



Internal ID16378094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75403949..75537504hg38UCSC Ensembl
Innerchr3:75453100..75586655hg19UCSC Ensembl
Innerchr3:75535790..75669345hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38133556
hg19133556
hg18133556
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8382n54
Supporting Variantsnssv965747, nssv965746, nssv965748
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv590685
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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