A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5465366



Internal ID243228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:144001381..144119690hg38UCSC Ensembl
chr4:144922534..145040843hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38118310
hg19118310
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16957979
Samples
Known GenesGYPA, GYPB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5465366
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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