A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961574



Internal ID19221368
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 StatusS
Merged Variantsnsv1128905
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961574
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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