A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742682



Internal ID20518667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:50307880..50308007hg38UCSC Ensembl
chr3:50345311..50345438hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282573
Samples
Known GenesHYAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742682
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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