A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434291



Internal ID212971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157292983..157293044hg38UCSC Ensembl
chr2:158149495..158149556hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921312
Samples
Known GenesGALNT5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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