A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519802



Internal ID15100409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:11236817..11578343hg38UCSC Ensembl
Innerchr19:11347493..11689158hg19UCSC Ensembl
Innerchr19:11208493..11550158hg18UCSC Ensembl
Innerchr19:11208493..11550158hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38341527
hg19341666
hg18341666
hg17341666
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697059
Samples
Known GenesACP5, C19orf80, CCDC151, CCDC159, CNN1, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, LPPR2, MIR7974, PRKCSH, RAB3D, RGL3, SWSAP1, TMEM205, TSPAN16, ZNF653
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519802
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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