A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3942713



Internal ID21362782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41300510..41300510hg38UCSC Ensembl
chr22:41696514..41696514hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg383499
hg193499
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15189996
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3942713
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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