A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522397



Internal ID15103004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:46871681..46936125hg38UCSC Ensembl
Innerchr18:44451644..44516088hg19UCSC Ensembl
Innerchr18:42705642..42770086hg18UCSC Ensembl
Innerchr18:42705642..42770086hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3864445
hg1964445
hg1864445
hg1764445
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695177
Samples
Known GenesPIAS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522397
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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