A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13302



Internal ID15832521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:67894834..67901413hg38UCSC Ensembl
Outerchr4:67892353..67908828hg38UCSC Ensembl
Innerchr4:68760552..68767131hg19UCSC Ensembl
Outerchr4:68758071..68774546hg19UCSC Ensembl
Innerchr4:68443147..68449726hg18UCSC Ensembl
Outerchr4:68440666..68457141hg18UCSC Ensembl
Innerchr4:68589318..68595897hg17UCSC Ensembl
Outerchr4:68586837..68603312hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3816476
hg1916476
hg1816476
hg1716476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10513
Supporting Variants
SamplesNA18502
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)nssv13302
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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