A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058623



Internal ID19147842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49918762..49966847hg38UCSC Ensembl
Innerchr19:50422019..50470104hg19UCSC Ensembl
Innerchr19:55113831..55161916hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3848086
hg1948086
hg1848086
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3574985
Samples
Known GenesATF5, IL4I1, MIR4751, NUP62, SIGLEC11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058623
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