A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596958



Internal ID16384367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:6712921..6715972hg38UCSC Ensembl
Innerchr5:6713034..6716085hg19UCSC Ensembl
Innerchr5:6766034..6769085hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg383052
hg193052
hg183052
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1023751, nssv1023750
Samples
Known GenesPAPD7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596958
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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