A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537844



Internal ID313040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:46972301..46972340hg38UCSC Ensembl
chr4:46974318..46974357hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950890
Samples
Known GenesGABRA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537844
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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