A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4730838



Internal ID20506753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:46962116..46968924hg38UCSC Ensembl
chr18:44542079..44548887hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386809
hg196809
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16282902
Samples
Known GenesKATNAL2, TCEB3C, TCEB3CL, TCEB3CL2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4730838
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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