A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6558518



Internal ID20931589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:8052008..8052619hg38UCSC Ensembl
chr6:8052241..8052852hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18274726
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, EEF1E1-BLOC1S5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6558518
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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