A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444497



Internal ID222867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157307526..157307747hg38UCSC Ensembl
chr2:158164038..158164259hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38222
hg19222
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921594
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444497
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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