A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6256498



Internal ID22061108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173936739..173936739hg38UCSC Ensembl
chr5:173363742..173363742hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17858891
Samples
Known GenesCPEB4
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6256498
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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