A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528323



Internal ID15108930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109115044..109225776hg38UCSC Ensembl
Innerchr12:109552849..109663581hg19UCSC Ensembl
Innerchr12:108037232..108147964hg18UCSC Ensembl
Innerchr12:108015569..108126301hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38110733
hg19110733
hg18110733
hg17110733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv704904
Samples
Known GenesACACB
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528323
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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