A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987326



Internal ID19217136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63183048..63189748hg38UCSC Ensembl
Outerchr20:61814400..61821100hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg386701
hg196701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132543
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987326
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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