A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3938420



Internal ID21358489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45904647..45904647hg38UCSC Ensembl
chr6:45872384..45872384hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15202774
SamplesHG002
Known GenesCLIC5
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3938420
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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