A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599889



Internal ID16387298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140852761..140855953hg38UCSC Ensembl
Innerchr5:140232346..140235538hg19UCSC Ensembl
Innerchr5:140212530..140215722hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383193
hg193193
hg183193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10103n54
Supporting Variantsnssv1042355, nssv1042353, nssv1042356, nssv1042354
Samples
Known GenesPCDHA1, PCDHA10, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599889
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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