A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19311



Internal ID15491702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7882549..8035223hg38UCSC Ensembl
Outerchr8:7882149..8035497hg38UCSC Ensembl
Innerchr8:7740071..7892745hg19UCSC Ensembl
Outerchr8:7739671..7893019hg19UCSC Ensembl
Innerchr8:7777481..7930155hg18UCSC Ensembl
Outerchr8:7777081..7930429hg18UCSC Ensembl
Innerchr8:7777481..7930155hg17UCSC Ensembl
Outerchr8:7777081..7930429hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38153349
hg19153349
hg18153349
hg17153349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18860
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4A, FAM66E, USP17L3, USP17L8, ZNF705B
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)nssv19311
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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