A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469774



Internal ID15187803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:108316735..108461238hg38UCSC Ensembl
Innerchr2:108933191..109077694hg19UCSC Ensembl
Innerchr2:108299623..108444126hg18UCSC Ensembl
Innerchr2:108554591..108699094hg16UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38144504
hg19144504
hg18144504
hg16144504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1674432
Samples
Known GenesGCC2, SULT1C2P1, SULT1C4
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)nsv469774
Frequency
Sample Size265
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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