A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469659



Internal ID15187688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25202943..25366882hg38UCSC Ensembl
Innerchr22:25598910..25762849hg19UCSC Ensembl
Innerchr22:23928910..24092849hg18UCSC Ensembl
Innerchr22:23923464..24087403hg16UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38163940
hg19163940
hg18163940
hg16163940
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674969, nssv1673963, nssv1675820
Samples
Known GenesCRYBB2, CRYBB3, IGLL3P, LRP5L
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)nsv469659
Frequency
Sample Size265
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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