A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679350



Internal ID15069316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:290233..295876hg38UCSC Ensembl
Innerchr11:290233..295876hg19UCSC Ensembl
Innerchr11:280233..285876hg18UCSC Ensembl
Innerchr11:280233..285876hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg385644
hg195644
hg185644
hg175644
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516809
Supporting Variants
Samples
Known GenesATHL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679350
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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