A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv651875



Internal ID15388527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47170072..47184018hg38UCSC Ensembl
Innerchr14:47639275..47653221hg19UCSC Ensembl
Innerchr14:46709025..46722971hg18UCSC Ensembl
Innerchr14:46709025..46722971hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3813947
hg1913947
hg1813947
hg1713947
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515585
Supporting Variants
Samples
Known GenesMDGA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv651875
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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