A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522291



Internal ID15449584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:171178408..171187293hg38UCSC Ensembl
Innerchr2:172034918..172043803hg19UCSC Ensembl
Innerchr2:171743164..171752049hg18UCSC Ensembl
Innerchr2:171860425..171869310hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg388886
hg198886
hg188886
hg178886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695073
Samples
Known GenesTLK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522291
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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