A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662450



Internal ID15399102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909536..39918694hg38UCSC Ensembl
Innerchr12:40303338..40312496hg19UCSC Ensembl
Innerchr12:38589605..38598763hg18UCSC Ensembl
Innerchr12:38589605..38598763hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg389159
hg199159
hg189159
hg179159
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515811
Supporting Variants
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662450
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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