A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6243118



Internal ID22047728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44953167..44953167hg38UCSC Ensembl
chr1:45418839..45418839hg19UCSC Ensembl
Cytoband1p34.1
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 Variantsnssv17852290
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6243118
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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