A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054360



Internal ID19143579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:79055627..79129749hg38UCSC Ensembl
Innerchr12:79449407..79523529hg19UCSC Ensembl
Innerchr12:77973538..78047660hg18UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3874123
hg1974123
hg1874123
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712557
Samples
Known GenesSYT1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054360
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