A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050781



Internal ID18793312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:212187..674733hg38UCSC Ensembl
Innerchr12:321353..783899hg19UCSC Ensembl
Innerchr12:191614..654160hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38462547
hg19462547
hg18462547
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3517299
Samples
Known GenesB4GALNT3, CCDC77, KDM5A, NINJ2, SLC6A12, SLC6A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050781
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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