A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv653593



Internal ID15390245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7855536..7933487hg38UCSC Ensembl
Innerchr12:8008132..8086083hg19UCSC Ensembl
Innerchr12:7899399..7977350hg18UCSC Ensembl
Innerchr12:7899399..7977350hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3877952
hg1977952
hg1877952
hg1777952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516107
Supporting Variants
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv653593
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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