A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251419



Internal ID22056029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37522528..37522528hg38UCSC Ensembl
chr20:36150930..36150930hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849965
Samples
Known GenesBLCAP, NNAT
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251419
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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