A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4002577



Internal ID18844540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44522816..44525817hg38UCSC Ensembl
Outerchr21:45942699..45945700hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383002
hg193002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1149068
Supporting Variants
SamplesKWB1
Known GenesTSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4002577
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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