A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6242173



Internal ID22046783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:14638214..14638214hg38UCSC Ensembl
chr2:14778338..14778338hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17846919
Samples
Known GenesFAM84A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6242173
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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