A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447448



Internal ID225751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183639371..183639746hg38UCSC Ensembl
chr3:183357159..183357534hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38376
hg19376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16944759
Samples
Known GenesKLHL24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447448
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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