A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527830



Internal ID15455123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:53557900..53640171hg38UCSC Ensembl
Innerchr2:53785037..53867308hg19UCSC Ensembl
Innerchr2:53638541..53720812hg18UCSC Ensembl
Innerchr2:53696688..53778959hg17UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3882272
hg1982272
hg1882272
hg1782272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704326
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527830
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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