A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018247



Internal ID19107464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:120134110..120176151hg38UCSC Ensembl
Innerchr5:119469805..119511846hg19UCSC Ensembl
Innerchr5:119497704..119539745hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3842042
hg1942042
hg1842042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5796n100
Supporting Variantsnssv3647981
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018247
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