A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472940



Internal ID250642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:115953415..115953474hg38UCSC Ensembl
chr6:116274578..116274637hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987422
Samples
Known GenesFRK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472940
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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