A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25995



Internal ID15830823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46136418..46702662hg38UCSC Ensembl
Outerchr17:46135065..46709397hg38UCSC Ensembl
Innerchr17:44213784..44780028hg19UCSC Ensembl
Outerchr17:44212431..44786763hg19UCSC Ensembl
Innerchr17:41569561..42135210hg18UCSC Ensembl
Outerchr17:41568208..42141946hg18UCSC Ensembl
Innerchr17:41569561..42135210hg17UCSC Ensembl
Outerchr17:41568208..42141946hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38574333
hg19574333
hg18573739
hg17573739
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA12155
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, 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)nssv25995
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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