A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525747



Internal ID6022705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:209087335..209116753hg19UCSC Ensembl
Innerchr2:208795580..208824998hg18UCSC Ensembl
Innerchr2:208912841..208942259hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv701914
Samples
Known GenesIDH1
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
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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