A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3517299



Internal ID18468894
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 StatusS
Merged Variantsnsv1050781
Supporting Variants
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)nssv3517299
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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