A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11496



Internal ID15482704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8620789..8637289hg38UCSC Ensembl
Outerchr4:8620252..8638060hg38UCSC Ensembl
Innerchr4:8622515..8639015hg19UCSC Ensembl
Outerchr4:8621978..8639786hg19UCSC Ensembl
Innerchr4:8673415..8689915hg18UCSC Ensembl
Outerchr4:8672878..8690686hg18UCSC Ensembl
Innerchr4:8740586..8757086hg17UCSC Ensembl
Outerchr4:8740049..8757857hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3817809
hg1917809
hg1817809
hg1717809
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10442
Supporting Variants
SamplesNA10863
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)nssv11496
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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