A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28321



Internal ID15496839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46565219..46709397hg38UCSC Ensembl
Outerchr17:46564270..46709842hg38UCSC Ensembl
Innerchr17:44642585..44786763hg19UCSC Ensembl
Outerchr17:44641636..44787208hg19UCSC Ensembl
Innerchr17:41997901..42141946hg18UCSC Ensembl
Outerchr17:41996952..42142391hg18UCSC Ensembl
Innerchr17:41997901..42141946hg17UCSC Ensembl
Outerchr17:41996952..42142391hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38145573
hg19145573
hg18145440
hg17145440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA19221
Known GenesARL17A, ARL17B, NSF, 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)nssv28321
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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