A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541871



Internal ID316421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:128078193..128078222hg38UCSC Ensembl
chr5:127413885..127413914hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974229
Samples
Known GenesFLJ33630
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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