A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599888



Internal ID16387297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140852761..140855491hg38UCSC Ensembl
Innerchr5:140232346..140235076hg19UCSC Ensembl
Innerchr5:140212530..140215260hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382731
hg192731
hg182731
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10103n54
Supporting Variantsnssv1042350, nssv1042351, nssv1042352
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)nsv599888
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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