A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054862



Internal ID19144081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37463949..37714239hg38UCSC Ensembl
Innerchr12:37857751..38108041hg19UCSC Ensembl
Innerchr12:36144018..36394308hg18UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38250291
hg19250291
hg18250291
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1466n100
Supporting Variantsnssv3522866
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054862
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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