A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148723



Internal ID19199177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:28757192..28762493hg38UCSC Ensembl
Outerchr5:28757299..28762600hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg385302
hg195302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997509
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148723
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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