A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403950



Internal ID183309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:112757719..112757770hg38UCSC Ensembl
chr4:113678875..113678926hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955092
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403950
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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