A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056345



Internal ID18798876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:24838934..25187523hg38UCSC Ensembl
Innerchr20:24819570..25168159hg19UCSC Ensembl
Innerchr20:24767570..25116159hg18UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38348590
hg19348590
hg18348590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3584673
Samples
Known GenesACSS1, APMAP, CST7, LOC284798, VSX1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056345
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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