A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519441



Internal ID15100048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:560144..607343hg38UCSC Ensembl
Innerchr12:669310..716509hg19UCSC Ensembl
Innerchr12:539571..586770hg18UCSC Ensembl
Innerchr12:539571..586770hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3847200
hg1947200
hg1847200
hg1747200
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694072
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519441
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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