A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19032



Internal ID15833077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:39505337..39505734hg38UCSC Ensembl
Outerchr8:39504977..39506104hg38UCSC Ensembl
Innerchr8:39362856..39363253hg19UCSC Ensembl
Outerchr8:39362496..39363623hg19UCSC Ensembl
Innerchr8:39482013..39482410hg18UCSC Ensembl
Outerchr8:39481653..39482780hg18UCSC Ensembl
Innerchr8:39482013..39482410hg17UCSC Ensembl
Outerchr8:39481653..39482780hg17UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg381128
hg191128
hg181128
hg171128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8331
Supporting Variants
SamplesNA18502
Known GenesADAM3A
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)nssv19032
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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