A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519659



Internal ID15100266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47972666..47995462hg38UCSC Ensembl
Innerchr12:48366449..48389245hg19UCSC Ensembl
Innerchr12:46652716..46675512hg18UCSC Ensembl
Innerchr12:46652716..46675512hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3822797
hg1922797
hg1822797
hg1722797
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696977
Samples
Known GenesCOL2A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519659
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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