A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv787310



Internal ID16081266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7970710hg38UCSC Ensembl
Innerchr12:7996890..8123306hg19UCSC Ensembl
Innerchr12:7888157..8014573hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126417
hg19126417
hg18126417
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv557287
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv787310
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer