A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850605



Internal ID22034248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50102354..50102354hg38UCSC Ensembl
chr20:48718891..48718891hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251500
Supporting Variants
Samples
Known GenesTMEM189-UBE2V1, UBE2V1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850605
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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