A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003888



Internal ID18846861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43958118..43960419hg38UCSC Ensembl
Outerchr21:45377999..45380300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382302
hg192302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1151323
Supporting Variants
SamplesKWB1
Known GenesAGPAT3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003888
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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