A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596974



Internal ID16037697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6713733..6714694hg38UCSC Ensembl
Innerchr5:6713846..6714807hg19UCSC Ensembl
Innerchr5:6766846..6767807hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38962
hg19962
hg18962
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023775, nssv1023777, nssv1023776
Samples
Known GenesPAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596974
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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