A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522259



Internal ID15449552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:38441194..38508948hg38UCSC Ensembl
Innerchr2:38668336..38736090hg19UCSC Ensembl
Innerchr2:38521840..38589594hg18UCSC Ensembl
Innerchr2:38579987..38647741hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3867755
hg1967755
hg1867755
hg1767755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695039
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522259
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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