A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693139



Internal ID116805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:72979643..72979679hg38UCSC Ensembl
chr13:73553781..73553817hg19UCSC Ensembl
Cytoband13q22.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5560082
Supporting Variants
Samples
Known GenesPIBF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693139
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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