A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456598



Internal ID234660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:105137800..105137851hg38UCSC Ensembl
chr6:105585675..105585726hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987843
Samples
Known GenesBVES-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456598
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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