A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526848



Internal ID15454141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40450034..40454311hg38UCSC Ensembl
Innerchr12:40843836..40848113hg19UCSC Ensembl
Innerchr12:39130103..39134380hg18UCSC Ensembl
Innerchr12:39130103..39134380hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384278
hg194278
hg184278
hg174278
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv703206
Samples
Known GenesMUC19
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526848
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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