A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022509



Internal ID18765043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179523828..179575750hg38UCSC Ensembl
Innerchr5:178950829..179002751hg19UCSC Ensembl
Innerchr5:178883435..178935357hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3851923
hg1951923
hg1851923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3649304
Samples
Known GenesRUFY1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022509
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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