A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518108



Internal ID15098715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32231490..32233480hg38UCSC Ensembl
Innerchr12:32384424..32386414hg19UCSC Ensembl
Innerchr12:32275691..32277681hg18UCSC Ensembl
Innerchr12:32275691..32277681hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381991
hg191991
hg181991
hg171991
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695522
Samples
Known GenesBICD1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518108
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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