A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945245



Internal ID30831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:15701618..15710131hg38UCSC Ensembl
chr4:15703241..15711754hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg388514
hg198514
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141338
Supporting Variants
Samples
Known GenesBST1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.007183


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