A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530000



Internal ID305998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49156664..49159336hg38UCSC Ensembl
chr17:47234026..47236698hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg382673
hg192673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724630
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530000
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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