A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469575



Internal ID15187604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:24253207..24449906hg38UCSC Ensembl
Innerchr1:24579697..24776396hg19UCSC Ensembl
Innerchr1:24452284..24648983hg18UCSC Ensembl
Innerchr1:23930865..24127564hg16UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38196700
hg19196700
hg18196700
hg16196700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1676636
Samples
Known GenesGRHL3, NIPAL3, STPG1
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)nsv469575
Frequency
Sample Size265
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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