A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv515585



Internal ID15443196
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 gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv661999, nssv651875, nssv693188, nssv686310
Samples
Known GenesMDGA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv515585
Frequency
Sample Size2026
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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