A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557275



Internal ID16344684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7800493..7905327hg38UCSC Ensembl
Innerchr12:7953089..8057923hg19UCSC Ensembl
Innerchr12:7844356..7949190hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38104835
hg19104835
hg18104835
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2328n54
Supporting Variantsnssv787270
Samples
Known GenesSLC2A14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557275
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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