A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525747



Internal ID8420022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:208222611..208252029hg38UCSC Ensembl
Innerchr2:209087335..209116753hg19UCSC Ensembl
Innerchr2:208795580..208824998hg18UCSC Ensembl
Innerchr2:208912841..208942259hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3829419
hg1929419
hg1829419
hg1729419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701914
Samples
Known GenesIDH1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525747
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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