A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1156417



Internal ID22086818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:179302587..179504309hg38UCSC Ensembl
Outerchr5:179293967..179509604hg38UCSC Ensembl
Innerchr5:178729588..178931310hg19UCSC Ensembl
Outerchr5:178720968..178936605hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38215638
hg19215638
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv237n97
Supporting Variantsnssv4018108, nssv4018109, nssv4018107, nssv4018110, nssv4018106
Samples
Known GenesADAMTS2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nsv1156417
Frequency
Sample Size131
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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