A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18655



Internal ID15840739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46389311..46390540hg38UCSC Ensembl
Innerchr10:47760883..47761195hg19UCSC Ensembl
Outerchr10:47760568..47761797hg19UCSC Ensembl
Innerchr10:47230889..47231201hg18UCSC Ensembl
Outerchr10:47230574..47231803hg18UCSC Ensembl
Innerchr10:47230889..47231201hg17UCSC Ensembl
Outerchr10:47230574..47231803hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg381230
hg191230
hg181230
hg171230
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18980
Known GenesANXA8L1, ANXA8L2
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)nssv18655
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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