A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977497



Internal ID19228094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:50109866..50142266hg38UCSC Ensembl
Outerchr5:49405700..49438100hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3832401
hg1932401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115689
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977497
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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