A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv528556



Internal ID15109163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21511945..21527429hg38UCSC Ensembl
Innerchr12:21664879..21680363hg19UCSC Ensembl
Innerchr12:21556146..21571630hg18UCSC Ensembl
Innerchr12:21556146..21571630hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3815485
hg1915485
hg1815485
hg1715485
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv705171
Samples
Known GenesC12orf39, GOLT1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv528556
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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