A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17522827



Internal ID21847186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101049765..101049765hg38UCSC Ensembl
chr2:101666227..101666227hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045237
Supporting Variants
Samples
Known GenesTBC1D8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17522827
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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