A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057217



Internal ID19146436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51780245..52113879hg38UCSC Ensembl
Innerchr19:52283498..52617132hg19UCSC Ensembl
Innerchr19:56975310..57308944hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38333635
hg19333635
hg18333635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3626n100
Supporting Variantsnssv3575028
Samples
Known GenesFPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057217
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