A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467383



Internal ID245197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46328453..46328570hg38UCSC Ensembl
chr4:46330470..46330587hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949926
Samples
Known GenesGABRA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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