A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146949



Internal ID19197041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181307298..181310099hg38UCSC Ensembl
Outerchr5:180734299..180737100hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg382802
hg192802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998312
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146949
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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