A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6258708



Internal ID22063318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34872865..34872865hg38UCSC Ensembl
chr14:35342071..35342071hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17847100
Samples
Known GenesBAZ1A
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6258708
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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