A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17618016



Internal ID21810063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49125171..49134422hg38UCSC Ensembl
chr17:47202533..47211784hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg389252
hg199252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6021739
Supporting Variants
Samples
Known GenesB4GALNT2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17618016
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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