A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697059



Internal ID15087025
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519802
Supporting Variants
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)nssv697059
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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