A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014463



Internal ID18756997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:65294286..65989398hg38UCSC Ensembl
Innerchr4:66160004..66855116hg19UCSC Ensembl
Innerchr4:65842599..66537711hg18UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg38695113
hg19695113
hg18695113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3626007
Samples
Known GenesEPHA5, LOC100144602
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014463
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