A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3505967



Internal ID18804248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7818125..7964473hg38UCSC Ensembl
Innerchr12:7970721..8117069hg19UCSC Ensembl
Innerchr12:7861988..8008336hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38146349
hg19146349
hg18146349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039479
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3505967
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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