A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527513



Internal ID15454806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51446438..51466460hg38UCSC Ensembl
Innerchr2:51673576..51693598hg19UCSC Ensembl
Innerchr2:51527080..51547102hg18UCSC Ensembl
Innerchr2:51585227..51605249hg17UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3820023
hg1920023
hg1820023
hg1720023
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703967
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv527513
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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