A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1141478



Internal ID19284160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:26476491..26481491hg38UCSC Ensembl
Outerchr5:26476600..26481600hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3992984
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1141478
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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