A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139836



Internal ID19279678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58552473..58557973hg38UCSC Ensembl
Outerchr5:57848300..57853800hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978172
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139836
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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