A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23401



Internal ID15829766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41376384..41382800hg38UCSC Ensembl
Outerchr17:41375424..41383870hg38UCSC Ensembl
Innerchr17:39532636..39539052hg19UCSC Ensembl
Outerchr17:39531676..39540122hg19UCSC Ensembl
Innerchr17:36786162..36792578hg18UCSC Ensembl
Outerchr17:36785202..36793648hg18UCSC Ensembl
Innerchr17:36786162..36792578hg17UCSC Ensembl
Outerchr17:36785202..36793648hg17UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg388447
hg198447
hg188447
hg178447
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9554
Supporting Variants
SamplesNA10863
Known GenesKRT34
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)nssv23401
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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