A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046123



Internal ID18788654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:558444..595282hg38UCSC Ensembl
Innerchr12:667610..704448hg19UCSC Ensembl
Innerchr12:537871..574709hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3836839
hg1936839
hg1836839
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1333n100
Supporting Variantsnssv3517785
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)nsv1046123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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