A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469872



Internal ID15187901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21603938..21772388hg38UCSC Ensembl
Innerchr16:21615259..21783709hg19UCSC Ensembl
Innerchr16:21522760..21691210hg18UCSC Ensembl
Innerchr16:21581812..21750262hg16UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38168451
hg19168451
hg18168451
hg16168451
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3n29
Supporting Variantsnssv1675869, nssv1674691, nssv1674836, nssv1673999, nssv1674415, nssv1676714, nssv1672451, nssv1672930, nssv1672761, nssv1676252, nssv1673763, nssv1673365
Samples
Known GenesIGSF6, METTL9, OTOA
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)nsv469872
Frequency
Sample Size265
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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