A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016595



Internal ID18759130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:119132963..119285977hg38UCSC Ensembl
Innerchr5:118468658..118621672hg19UCSC Ensembl
Innerchr5:118496557..118649571hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38153015
hg19153015
hg18153015
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3647972
Samples
Known GenesDMXL1, TNFAIP8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016595
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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