A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599835



Internal ID16040558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140848698hg38UCSC Ensembl
Innerchr5:140214995..140228283hg19UCSC Ensembl
Innerchr5:140195179..140208467hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813289
hg1913289
hg1813289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10092n54
Supporting Variantsnssv1042110, nssv1042111
Samples
Known GenesPCDHA1, 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)nsv599835
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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