A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522553



Internal ID15449846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:49243728..49397775hg38UCSC Ensembl
Innerchr18:46770098..46924145hg19UCSC Ensembl
Innerchr18:45024096..45178143hg18UCSC Ensembl
Innerchr18:45024096..45178143hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg38154048
hg19154048
hg18154048
hg17154048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705934
Samples
Known GenesDYM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522553
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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