A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3953912



Internal ID21373981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44229627..44229627hg38UCSC Ensembl
chr21:45649510..45649510hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189125
SamplesHG002
Known GenesICOSLG
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3953912
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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