A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3770466



Internal ID18969043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:41473472..41477873hg38UCSC Ensembl
chr21:42845399..42849800hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg384402
hg194402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1071755
Supporting Variants
SamplesKWP1
Known GenesTMPRSS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3770466
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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