A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557323



Internal ID16344732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7870619..7923089hg38UCSC Ensembl
Innerchr12:8023215..8075685hg19UCSC Ensembl
Innerchr12:7914482..7966952hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3852471
hg1952471
hg1852471
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2336n54
Supporting Variantsnssv787416
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557323
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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