A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600344



Internal ID16387753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176527707..176544203hg38UCSC Ensembl
Innerchr5:175954708..175971204hg19UCSC Ensembl
Innerchr5:175887314..175903810hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg3816497
hg1916497
hg1816497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1045688
Samples
Known GenesCDHR2, RNF44
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600344
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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