A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6066794



Internal ID21976027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50311333..50311333hg38UCSC Ensembl
chr3:50348764..50348764hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17538697
Samples
Known GenesHYAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6066794
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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