A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14305571



Internal ID22165381
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3562271
Supporting Variants
SamplesHG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14305571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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