A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149960



Internal ID19203387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:170240195..170245296hg38UCSC Ensembl
Outerchr5:169667199..169672300hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385102
hg195102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998747
SamplesKWB1
Known GenesC5orf58
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149960
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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