A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406512



Internal ID21064065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8022522..8025210hg38UCSC Ensembl
chr6:8022755..8025443hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg382689
hg192689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18147235
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406512
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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