A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562413



Internal ID22431167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44213596..44213596hg38UCSC Ensembl
chr22:44609476..44609476hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14304396, nssv14304395
SamplesHG00731, HG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562413
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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