A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469829



Internal ID15187858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:22755529..22936917hg38UCSC Ensembl
Innerchr1:23082022..23263410hg19UCSC Ensembl
Innerchr1:22954609..23135997hg18UCSC Ensembl
Innerchr1:22551497..22732885hg16UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38181389
hg19181389
hg18181389
hg16181389
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676469, nssv1673091, nssv1672826, nssv1672672
Samples
Known GenesEPHB2, MIR4253
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)nsv469829
Frequency
Sample Size265
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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