A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054819



Internal ID19144038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:83782052..84834721hg38UCSC Ensembl
Innerchr12:84175831..85228500hg19UCSC Ensembl
Innerchr12:82699962..83752631hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg381052670
hg191052670
hg181052670
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524748
Samples
Known GenesMIR548T
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054819
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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