A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444651



Internal ID223022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183497328..183498150hg38UCSC Ensembl
chr3:183215116..183215938hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38823
hg19823
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944741
Samples
Known GenesKLHL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444651
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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