A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4765502



Internal ID20541362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:72647792..72647792hg38UCSC Ensembl
chr9:75262708..75262708hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg382117
hg192117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16289746
Samples
Known GenesTMC1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4765502
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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