A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6543050



Internal ID20916301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46758202..46763366hg38UCSC Ensembl
chr22:47154099..47159263hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg385165
hg195165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18075001
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6543050
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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