A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034616



Internal ID19123838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119170653..119264696hg38UCSC Ensembl
Innerchr5:118506348..118600391hg19UCSC Ensembl
Innerchr5:118534247..118628290hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3894044
hg1994044
hg1894044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5794n100
Supporting Variantsnssv3647973
Samples
Known GenesDMXL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034616
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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