A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139847



Internal ID19254941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:130732407..130737807hg38UCSC Ensembl
Outerchr5:130068100..130073500hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978183
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139847
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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