A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5502458



Internal ID279324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:63518387..63954542hg38UCSC Ensembl
chr13:64092520..64528675hg19UCSC Ensembl
Cytoband13q21.31
Allele length
AssemblyAllele length
hg38436156
hg19436156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17691557
Samples
Known GenesLINC00395, OR7E156P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5502458
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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