A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13430



Internal ID15837634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53535217..53536406hg38UCSC Ensembl
Outerchr1:53534590..53537015hg38UCSC Ensembl
Innerchr1:54000890..54002079hg19UCSC Ensembl
Outerchr1:54000263..54002688hg19UCSC Ensembl
Innerchr1:53773478..53774667hg18UCSC Ensembl
Outerchr1:53772851..53775276hg18UCSC Ensembl
Innerchr1:53712911..53714100hg17UCSC 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 StatusS
Merged Variantsnsv10162
Supporting Variants
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)nssv13430
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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