A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469873



Internal ID15187902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152590784..152741140hg38UCSC Ensembl
Innerchr1:152563260..152713616hg19UCSC Ensembl
Innerchr1:150829884..150980240hg18UCSC Ensembl
Innerchr1:149779842..149930198hg16UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38150357
hg19150357
hg18150357
hg16150357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672283
Samples
Known GenesC1orf68, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE4A
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)nsv469873
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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