A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769159



Internal ID19313902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45606085..45607386hg38UCSC Ensembl
chr21:47025999..47027300hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg381302
hg191302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077402
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769159
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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