A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv25155



Internal ID15843413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41227574..41249458hg38UCSC Ensembl
Outerchr17:41225989..41251001hg38UCSC Ensembl
Innerchr17:39383826..39405710hg19UCSC Ensembl
Outerchr17:39382241..39407253hg19UCSC Ensembl
Innerchr17:36637352..36659236hg18UCSC Ensembl
Outerchr17:36635767..36660779hg18UCSC Ensembl
Innerchr17:36637352..36659236hg17UCSC Ensembl
Outerchr17:36635767..36660779hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825013
hg1925013
hg1825013
hg1725013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9551
Supporting Variants
SamplesNA19173
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-4, KRTAP9-8
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)nssv25155
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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