A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1042109



Internal ID15548609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:140835410..140848579hg38UCSC Ensembl
Innerchr5:140214995..140228164hg19UCSC Ensembl
Innerchr5:140195179..140208348hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3813170
hg1913170
hg1813170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599834
Supporting Variants
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)nssv1042109
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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