A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19398



Internal ID15836325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:54261747..54261760hg38UCSC Ensembl
Outerchr10:54225381..54262852hg38UCSC Ensembl
Innerchr10:56021507..56021520hg19UCSC Ensembl
Outerchr10:55985141..56022612hg19UCSC Ensembl
Innerchr10:55691513..55691526hg18UCSC Ensembl
Outerchr10:55655147..55692618hg18UCSC Ensembl
Innerchr10:55691513..55691526hg17UCSC Ensembl
Outerchr10:55655147..55692618hg17UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3837472
hg1937472
hg1837472
hg1737472
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8667
Supporting Variants
SamplesNA18564
Known GenesPCDH15
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv19398
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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