A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522093



Internal ID15449386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141414797..141485028hg38UCSC Ensembl
Innerchr2:142172366..142242597hg19UCSC Ensembl
Innerchr2:141888836..141959067hg18UCSC Ensembl
Innerchr2:142006098..142076329hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3870232
hg1970232
hg1870232
hg1770232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694865
Samples
Known GenesLRP1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522093
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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