A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469621



Internal ID15187650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9986046..10140663hg38UCSC Ensembl
Innerchr4:9987670..10142287hg19UCSC Ensembl
Innerchr4:9596768..9751385hg18UCSC Ensembl
Innerchr4:9738553..9893170hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38154618
hg19154618
hg18154618
hg16154618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674303, nssv1675273, nssv1675142, nssv1673227, nssv1672393, nssv1676685, nssv1672722, nssv1674617, nssv1675725, nssv1675602
Samples
Known GenesMIR3138, SLC2A9, WDR1
MethodBAC aCGH
AnalysisA locus was considered a CNV if the log ratio of fluorescence measurements for the individuals assayed exceeded twice the SD of the autosomal clones in both dye-swapped experiments.
PlatformGPL4010
Comments
ReferenceLocke_et_al_2006
Pubmed ID16826518
Accession Number(s)nsv469621
Frequency
Sample Size265
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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