A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443550



Internal ID221945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31028878..31035310hg38UCSC Ensembl
chr2:31251744..31258176hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg386433
hg196433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910452
Samples
Known GenesGALNT14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443550
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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