A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4446789



Internal ID22112966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:45155575..45155575hg38UCSC Ensembl
chr21:46575490..46575490hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15760600
Samples
Known GenesADARB1
MethodSequencing
Analysis
Platform
CommentsSVTYPE=INS;REPTYPE=SIMPLEINS
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nsv4446789
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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