A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19077



Internal ID15494925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7967092..7986534hg38UCSC Ensembl
Outerchr8:7966714..7986969hg38UCSC Ensembl
Innerchr8:7824614..7844056hg19UCSC Ensembl
Outerchr8:7824236..7844491hg19UCSC Ensembl
Innerchr8:7862024..7881466hg18UCSC Ensembl
Outerchr8:7861646..7881901hg18UCSC Ensembl
Innerchr8:7862024..7881466hg17UCSC Ensembl
Outerchr8:7861646..7881901hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3820256
hg1920256
hg1820256
hg1720256
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA19132
Known GenesFAM66E, USP17L3, USP17L8
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)nssv19077
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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