A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10162



Internal ID15845125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53534590..53537015hg38UCSC Ensembl
Outerchr1:54000263..54002688hg19UCSC Ensembl
Outerchr1:53772851..53775276hg18UCSC Ensembl
Outerchr1:53712284..53714709hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382426
hg192426
hg182426
hg172426
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13430
SamplesNA18853
Known GenesGLIS1
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)nsv10162
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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