A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17611568



Internal ID21803615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48250471..48250471hg38UCSC Ensembl
chr13:48824607..48824607hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6093345
Supporting Variants
Samples
Known GenesITM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17611568
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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