A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518772



Internal ID15446065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8463213..8514983hg38UCSC Ensembl
Innerchr12:8615809..8667579hg19UCSC Ensembl
Innerchr12:8507076..8558846hg18UCSC Ensembl
Innerchr12:8507076..8558846hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3851771
hg1951771
hg1851771
hg1751771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696222
Samples
Known GenesCLEC4D, CLEC6A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518772
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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