A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468251



Internal ID246052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:77566071..77569963hg38UCSC Ensembl
chr6:78275788..78279680hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg383893
hg193893
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984254
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468251
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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