A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050847



Internal ID19140066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39909829..39920770hg38UCSC Ensembl
Innerchr12:40303631..40314572hg19UCSC Ensembl
Innerchr12:38589898..38600839hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3810942
hg1910942
hg1810942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1490n100
Supporting Variantsnssv3523490
Samples
Known GenesSLC2A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050847
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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