A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5947621



Internal ID22723124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54185303..54185303hg38UCSC Ensembl
chr1:54650976..54650976hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388764
Samples
Known GenesCYB5RL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5947621
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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