A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19957



Internal ID15483387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:77413196..77413787hg38UCSC Ensembl
Outerchr10:77411912..77414994hg38UCSC Ensembl
Innerchr10:79172954..79173545hg19UCSC Ensembl
Outerchr10:79171670..79174752hg19UCSC Ensembl
Innerchr10:78842960..78843551hg18UCSC Ensembl
Outerchr10:78841676..78844758hg18UCSC Ensembl
Innerchr10:78842960..78843551hg17UCSC Ensembl
Outerchr10:78841676..78844758hg17UCSC Ensembl
Cytoband10q22.3
Allele length
AssemblyAllele length
hg383083
hg193083
hg183083
hg173083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8692
Supporting Variants
SamplesNA11830
Known GenesKCNMA1
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)nssv19957
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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