A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050390



Internal ID19139609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63545960..63741647hg38UCSC Ensembl
Innerchr12:63939740..64135427hg19UCSC Ensembl
Innerchr12:62226007..62421694hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38195688
hg19195688
hg18195688
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516n100
Supporting Variantsnssv3523748, nssv3523747
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050390
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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