A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6539115



Internal ID20912422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:39418055..39418751hg38UCSC Ensembl
chr21:40789981..40790677hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072395
Samples
Known GenesLCA5L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6539115
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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