A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9553



Internal ID15847465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:41350232..41369897hg38UCSC Ensembl
Outerchr17:39506484..39526149hg19UCSC Ensembl
Outerchr17:36760010..36779675hg18UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv27432, nssv26090, nssv27090
SamplesNA18502, NA18860, NA19240
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)nsv9553
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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