A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469837



Internal ID15187866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:80406994..80555534hg38UCSC Ensembl
Innerchr10:82166750..82315290hg19UCSC Ensembl
Innerchr10:82156730..82305270hg18UCSC Ensembl
Innerchr10:81831327..81979867hg16UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38148541
hg19148541
hg18148541
hg16148541
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672365, nssv1674243, nssv1675265, nssv1672341, nssv1672350, nssv1672759, nssv1674271, nssv1674342, nssv1673965, nssv1676126
Samples
Known GenesFAM213A, SH2D4B, TSPAN14
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)nsv469837
Frequency
Sample Size265
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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