A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13071



Internal ID15838649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68637311..68638357hg38UCSC Ensembl
Outerchr4:68635628..68638632hg38UCSC Ensembl
Innerchr4:69503029..69504075hg19UCSC Ensembl
Outerchr4:69501346..69504350hg19UCSC Ensembl
Innerchr4:69185624..69186670hg18UCSC Ensembl
Outerchr4:69183941..69186945hg18UCSC Ensembl
Innerchr4:69331795..69332841hg17UCSC Ensembl
Outerchr4:69330112..69333116hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg383005
hg193005
hg183005
hg173005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10516
Supporting Variants
SamplesNA18860
Known Genes
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)nssv13071
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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