A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557811



Internal ID330897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10252889..10252936hg38UCSC Ensembl
chr5:10253001..10253048hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38594
hg19594
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962517
Samples
Known GenesCCT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557811
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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