A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16278648



Internal ID20487866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101049715..101049715hg38UCSC Ensembl
chr2:101666177..101666177hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4760011
Supporting Variants
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16278648
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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