A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19063



Internal ID15486820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7252346..7459276hg38UCSC Ensembl
Outerchr8:7247495..7461309hg38UCSC Ensembl
Innerchr8:7109868..7316798hg19UCSC Ensembl
Outerchr8:7105017..7318831hg19UCSC Ensembl
Innerchr8:7097278..7304208hg18UCSC Ensembl
Outerchr8:7092427..7306241hg18UCSC Ensembl
Innerchr8:7097278..7304208hg17UCSC Ensembl
Outerchr8:7092427..7306241hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38213815
hg19213815
hg18213815
hg17213815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8281
Supporting Variants
SamplesNA18504
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4B, FAM66B, LINC00965, SPAG11B, USP17L1P, USP17L4, ZNF705G
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)nssv19063
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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