A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002794



Internal ID18745326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:8108356..8489207hg38UCSC Ensembl
Innerchr4:8110083..8490934hg19UCSC Ensembl
Innerchr4:8160983..8541834hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38380852
hg19380852
hg18380852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3738144
Samples
Known GenesABLIM2, ACOX3, HTRA3, SH3TC1, TRMT44
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002794
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