A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3562271



Internal ID22431027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:34363017..34363017hg38UCSC Ensembl
chr22:34759007..34759007hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14305573, nssv14305574, nssv14305572, nssv14305569, nssv14305570, nssv14305571
SamplesHG00512, NA19238, NA19239, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3562271
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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