A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696911



Internal ID15086877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:46746015..46926598hg38UCSC Ensembl
Innerchr14:47215218..47395801hg19UCSC Ensembl
Innerchr14:46284968..46465551hg18UCSC Ensembl
Innerchr14:46284968..46465551hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38180584
hg19180584
hg18180584
hg17180584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517764
Supporting Variants
Samples
Known GenesMDGA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696911
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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