A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6336215



Internal ID20993768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217466990..217551441hg38UCSC Ensembl
chr2:218331713..218416164hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3884452
hg1984452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18205624
Samples
Known GenesDIRC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6336215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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