A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187453



Internal ID21326289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45038071..45038071hg38UCSC Ensembl
chr22:45433952..45433952hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3948523
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187453
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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