A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4018111



Internal ID22079742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179327678..179504309hg38UCSC Ensembl
Outerchr5:179325094..179509604hg38UCSC Ensembl
Innerchr5:178754679..178931310hg19UCSC Ensembl
Outerchr5:178752095..178936605hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38184511
hg19184511
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1156418
Supporting Variants
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4018111
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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