A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550968



Internal ID324463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110473739..110473739hg38UCSC Ensembl
chr6:110794942..110794942hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987973
Samples
Known GenesSLC22A16
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550968
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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