A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469694



Internal ID15187723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:149717316..149864714hg38UCSC Ensembl
Innerchr1:149688852..149836280hg19UCSC Ensembl
Innerchr1:147955476..148102904hg18UCSC Ensembl
Innerchr1:146905434..147052862hg16UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38147399
hg19147429
hg18147429
hg16147429
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1675404, nssv1675737, nssv1675279
Samples
Known GenesFCGR1A, HIST2H2AA3, HIST2H2AA4, HIST2H2BC, HIST2H2BF, HIST2H3A, HIST2H3C, HIST2H3D, HIST2H4A, HIST2H4B
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)nsv469694
Frequency
Sample Size265
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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