A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557308



Internal ID16344717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7848316..7973149hg38UCSC Ensembl
Innerchr12:8000912..8125745hg19UCSC Ensembl
Innerchr12:7892179..8017012hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38124834
hg19124834
hg18124834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2335n54
Supporting Variantsnssv787398, nssv787397, nssv787396
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557308
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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