A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128905



Internal ID19256034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2206786..2212986hg38UCSC Ensembl
Outerchr5:2206900..2213100hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg386201
hg196201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961574
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128905
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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