A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599851



Internal ID16040574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140847633..140852761hg38UCSC Ensembl
Innerchr5:140227218..140232346hg19UCSC Ensembl
Innerchr5:140207402..140212530hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg385129
hg195129
hg185129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10096n54
Supporting Variantsnssv1153107, nssv1153109, nssv1153108, nssv1153105, nssv1153104, nssv1153106
SamplesHGDP00433, HGDP00226, HGDP00140, HGDP01067, HGDP01323, HGDP00618
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)nsv599851
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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