A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1175784



Internal ID15853882
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
Samples1780854477_A
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1175784
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