A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519118



Internal ID15099725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:116948280..117083375hg38UCSC Ensembl
Innerchr12:117386085..117521180hg19UCSC Ensembl
Innerchr12:115870468..116005563hg18UCSC Ensembl
Innerchr12:115848805..115983900hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg38135096
hg19135096
hg18135096
hg17135096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696594
Samples
Known GenesFBXW8, LOC100506551, TESC
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519118
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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