A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17858946



Internal ID22042589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42637981..42637981hg38UCSC Ensembl
chr6:42605719..42605719hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38178
hg19178
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6245069
Supporting Variants
Samples
Known GenesUBR2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17858946
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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