A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653154



Internal ID15043120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46613802..46950664hg38UCSC Ensembl
Innerchr14:47083005..47419867hg19UCSC Ensembl
Innerchr14:46152755..46489617hg18UCSC Ensembl
Innerchr14:46152755..46489617hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38336863
hg19336863
hg18336863
hg17336863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517764
Supporting Variants
Samples
Known GenesMDGA2, RPL10L
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653154
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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