A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520021



Internal ID15447314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:77686578..77741951hg38UCSC Ensembl
Innerchr14:78152921..78208294hg19UCSC Ensembl
Innerchr14:77222674..77278047hg18UCSC Ensembl
Innerchr14:77222674..77278047hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3855374
hg1955374
hg1855374
hg1755374
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697181
Samples
Known GenesALKBH1, SLIRP, SNW1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520021
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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