A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522213



Internal ID15449506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47720962..47729705hg38UCSC Ensembl
Innerchr2:47948101..47956844hg19UCSC Ensembl
Innerchr2:47801605..47810348hg18UCSC Ensembl
Innerchr2:47859752..47868495hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg388744
hg198744
hg188744
hg178744
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694989
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv522213
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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