A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557278



Internal ID16344687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7935631hg38UCSC Ensembl
Innerchr12:7970721..8088227hg19UCSC Ensembl
Innerchr12:7861988..7979494hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38117507
hg19117507
hg18117507
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2328n54
Supporting Variantsnssv787274
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557278
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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