A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6544986



Internal ID20918223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:40484765..40490601hg38UCSC Ensembl
chr21:41856692..41862528hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg385837
hg195837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18072736
Samples
Known GenesDSCAM
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6544986
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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