A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6377847



Internal ID21035400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143899921..144135320hg38UCSC Ensembl
chr4:144821074..145056473hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38235400
hg19235400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18213110
Samples
Known GenesGYPA, GYPB, GYPE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6377847
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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