A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469724



Internal ID15187753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30621124..30828942hg38UCSC Ensembl
Innerchr16:30632445..30840263hg19UCSC Ensembl
Innerchr16:30539946..30747764hg18UCSC Ensembl
Innerchr16:30668505..30876323hg16UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38207819
hg19207819
hg18207819
hg16207819
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674106, nssv1674525
Samples
Known GenesC16orf93, FBRS, LOC100862671, LOC730183, PHKG2, PRR14, RNF40, SNORA30, SRCAP, ZNF629
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)nsv469724
Frequency
Sample Size265
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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