A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6253943



Internal ID22058553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:44454013..44454013hg38UCSC Ensembl
chr3:44495505..44495505hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17852114
Samples
Known GenesZNF445
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6253943
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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