A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520997



Internal ID15448290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:99838729..99842582hg38UCSC Ensembl
Innerchr14:100305066..100308919hg19UCSC Ensembl
Innerchr14:99374819..99378672hg18UCSC Ensembl
Innerchr14:99374819..99378672hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg383854
hg193854
hg183854
hg173854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697728
Samples
Known GenesEML1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520997
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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