A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454046



Internal ID232152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38867730..38867783hg38UCSC Ensembl
chr4:38869351..38869404hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16947421
Samples
Known GenesFAM114A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454046
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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