A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403921



Internal ID183280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140134464..140134515hg38UCSC Ensembl
chr4:141055618..141055669hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958528
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403921
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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