A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146093



Internal ID345298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42550490..42557980hg38UCSC Ensembl
chr17:40702508..40709998hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg387491
hg197491
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724519
Samples
Known GenesHSD17B1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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