A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523094



Internal ID15103701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:17511903..17527335hg38UCSC Ensembl
Innerchr17:17415217..17430649hg19UCSC Ensembl
Innerchr17:17355942..17371374hg18UCSC Ensembl
Innerchr17:17355942..17371374hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3815433
hg1915433
hg1815433
hg1715433
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698786
Samples
Known GenesPEMT
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523094
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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