A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17850460



Internal ID22034103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:16049391..16049391hg38UCSC Ensembl
chr20:16030036..16030036hg19UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6251281
Supporting Variants
Samples
Known GenesMACROD2
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nssv17850460
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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