A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980023



Internal ID54071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8052778..8055337hg38UCSC Ensembl
chr6:8053011..8055570hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382560
hg192560
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456431
Supporting Variants
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980023
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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