A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596950



Internal ID16037673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6708370..6714694hg38UCSC Ensembl
Innerchr5:6708483..6714807hg19UCSC Ensembl
Innerchr5:6761483..6767807hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg386325
hg196325
hg186325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023703
Samples
Known GenesPAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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