A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469711



Internal ID15187740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:6210020..6384370hg38UCSC Ensembl
Innerchr4:6211747..6386097hg19UCSC Ensembl
Innerchr4:6262648..6436998hg18UCSC Ensembl
Innerchr4:6276289..6450639hg16UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38174351
hg19174351
hg18174351
hg16174351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672788, nssv1674984, nssv1672125, nssv1672978, nssv1674766, nssv1673537, nssv1674360, nssv1673346, nssv1675216, nssv1676675, nssv1672824, nssv1674834, nssv1676405, nssv1674421, nssv1674445, nssv1674099, nssv1672867, nssv1673191, nssv1673824, nssv1674559, nssv1673525, nssv1676007, nssv1676541, nssv1675344, nssv1675355, nssv1675656, nssv1674319, nssv1674257, nssv1674335, nssv1673352
Samples
Known GenesLOC285484, PPP2R2C, WFS1
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)nsv469711
Frequency
Sample Size265
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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