A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26478



Internal ID15486938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46337157..46487908hg38UCSC Ensembl
Outerchr17:46336644..46490822hg38UCSC Ensembl
Innerchr17:44414523..44565274hg19UCSC Ensembl
Outerchr17:44414010..44568188hg19UCSC Ensembl
Innerchr17:41770281..41920590hg18UCSC Ensembl
Outerchr17:41769768..41923504hg18UCSC Ensembl
Innerchr17:41770281..41920590hg17UCSC Ensembl
Outerchr17:41769768..41923504hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38154179
hg19154179
hg18153737
hg17153737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA18504
Known GenesARL17A, ARL17B, LRRC37A, NSFP1
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)nssv26478
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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