A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11835



Internal ID15834954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49557441..49562353hg38UCSC Ensembl
Outerchr4:49557301..49562354hg38UCSC Ensembl
Innerchr4:49559458..49564370hg19UCSC Ensembl
Outerchr4:49559318..49564371hg19UCSC Ensembl
Innerchr4:49254215..49259127hg18UCSC Ensembl
Outerchr4:49254075..49259128hg18UCSC Ensembl
Innerchr4:49400386..49405298hg17UCSC Ensembl
Outerchr4:49400246..49405299hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg385054
hg195054
hg185054
hg175054
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10491
Supporting Variants
SamplesNA18537
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)nssv11835
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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