A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557311



Internal ID16344720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851162..7973149hg38UCSC Ensembl
Innerchr12:8003758..8125745hg19UCSC Ensembl
Innerchr12:7895025..8017012hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38121988
hg19121988
hg18121988
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2329n54
Supporting Variantsnssv787402
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557311
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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