A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000322



Internal ID19194868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10010271..10169772hg38UCSC Ensembl
Outerchr21:10488299..10647800hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38159502
hg19159502
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148290
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000322
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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