A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3511193



Internal ID18462788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:524853..667205hg38UCSC Ensembl
Innerchr12:634019..776371hg19UCSC Ensembl
Innerchr12:504280..646632hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38142353
hg19142353
hg18142353
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1042529
Supporting Variants
Samples
Known GenesB4GALNT3, NINJ2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3511193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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