A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18475



Internal ID15840675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46554554..46739317hg38UCSC Ensembl
Outerchr10:46553611..46739380hg38UCSC Ensembl
Innerchr10:46810300..46995063hg19UCSC Ensembl
Outerchr10:46810237..46996006hg19UCSC Ensembl
Innerchr10:46230306..46415069hg18UCSC Ensembl
Outerchr10:46230243..46416012hg18UCSC Ensembl
Innerchr10:46230306..46415069hg17UCSC Ensembl
Outerchr10:46230243..46416012hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38185770
hg19185770
hg18185770
hg17185770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18980
Known GenesFAM35BP, GPRIN2, SYT15
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)nssv18475
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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