A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469732



Internal ID15187761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143957112..144138551hg38UCSC Ensembl
Innerchr4:144878265..145059704hg19UCSC Ensembl
Innerchr4:145097715..145279154hg18UCSC Ensembl
Innerchr4:145455892..145637331hg16UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38181440
hg19181440
hg18181440
hg16181440
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1672563, nssv1674156
Samples
Known GenesGYPA, GYPB
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)nsv469732
Frequency
Sample Size265
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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