A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19613



Internal ID15492770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12140055..12151123hg38UCSC Ensembl
Outerchr8:12139747..12151461hg38UCSC Ensembl
Innerchr8:11997564..12008632hg19UCSC Ensembl
Outerchr8:11997256..12008970hg19UCSC Ensembl
Innerchr8:12034973..12046041hg18UCSC Ensembl
Outerchr8:12034665..12046379hg18UCSC Ensembl
Innerchr8:12034973..12046041hg17UCSC Ensembl
Outerchr8:12034665..12046379hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3811715
hg1911715
hg1811715
hg1711715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8288
Supporting Variants
SamplesNA18972
Known GenesFAM66D
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)nssv19613
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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