A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525456



Internal ID15106063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47972666..47983186hg38UCSC Ensembl
Innerchr12:48366449..48376969hg19UCSC Ensembl
Innerchr12:46652716..46663236hg18UCSC Ensembl
Innerchr12:46652716..46663236hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3810521
hg1910521
hg1810521
hg1710521
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701584
Samples
Known GenesCOL2A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525456
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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