A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11758



Internal ID15495949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8620789..8637016hg38UCSC Ensembl
Outerchr4:8620252..8637289hg38UCSC Ensembl
Innerchr4:8622515..8638742hg19UCSC Ensembl
Outerchr4:8621978..8639015hg19UCSC Ensembl
Innerchr4:8673415..8689642hg18UCSC Ensembl
Outerchr4:8672878..8689915hg18UCSC Ensembl
Innerchr4:8740586..8756813hg17UCSC Ensembl
Outerchr4:8740049..8757086hg17UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg3817038
hg1917038
hg1817038
hg1717038
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10442
Supporting Variants
SamplesNA19144
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)nssv11758
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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