A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1035145



Internal ID18777676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:558444..607972hg38UCSC Ensembl
Innerchr12:667610..717138hg19UCSC Ensembl
Innerchr12:537871..587399hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3849529
hg1949529
hg1849529
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1333n100
Supporting Variantsnssv3504903, nssv3515238, nssv3515470
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)nsv1035145
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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