A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27090



Internal ID15832904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41351817..41369292hg38UCSC Ensembl
Outerchr17:41350232..41369897hg38UCSC Ensembl
Innerchr17:39508069..39525544hg19UCSC Ensembl
Outerchr17:39506484..39526149hg19UCSC Ensembl
Innerchr17:36761595..36779070hg18UCSC Ensembl
Outerchr17:36760010..36779675hg18UCSC Ensembl
Innerchr17:36761595..36779070hg17UCSC Ensembl
Outerchr17:36760010..36779675hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3819666
hg1919666
hg1819666
hg1719666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9553
Supporting Variants
SamplesNA18502
Known GenesKRT33A, KRT33B
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)nssv27090
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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