A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599865



Internal ID16040588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140850785..140855491hg38UCSC Ensembl
Innerchr5:140230370..140235076hg19UCSC Ensembl
Innerchr5:140210554..140215260hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg384707
hg194707
hg184707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10098n54
Supporting Variantsnssv1042223
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)nsv599865
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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