A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445198



Internal ID223555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229939508..230186233hg38UCSC Ensembl
chr1:230075255..230321979hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38246726
hg19246725
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898511
Samples
Known GenesGALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445198
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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