A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599890



Internal ID16040613
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140852761..140856513hg38UCSC Ensembl
Innerchr5:140232346..140236098hg19UCSC Ensembl
Innerchr5:140212530..140216282hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg383753
hg193753
hg183753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10101n54
Supporting Variantsnssv1042358, nssv1042361, nssv1042357, nssv1042362, nssv1042359, nssv1042360
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)nsv599890
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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