A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17564233



Internal ID21888588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8052890..8055430hg38UCSC Ensembl
chr6:8053123..8055663hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382541
hg192541
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6010044
Supporting Variants
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17564233
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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