A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23485



Internal ID15482986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088388..46243166hg38UCSC Ensembl
Outerchr17:46087818..46243964hg38UCSC Ensembl
Innerchr17:44165754..44320532hg19UCSC Ensembl
Outerchr17:44165184..44321330hg19UCSC Ensembl
Innerchr17:41521572..41676309hg18UCSC Ensembl
Outerchr17:41521002..41677107hg18UCSC Ensembl
Innerchr17:41521572..41676309hg17UCSC Ensembl
Outerchr17:41521002..41677107hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38156147
hg19156147
hg18156106
hg17156106
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10863
Known GenesKANSL1, KANSL1-AS1, LOC644172
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)nssv23485
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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