A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454749



Internal ID232844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:106361513..106476921hg38UCSC Ensembl
chr4:107282670..107398078hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38115409
hg19115409
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955439
Samples
Known GenesGIMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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