A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5404585



Internal ID183936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182855104..182855149hg38UCSC Ensembl
chr3:182572892..182572937hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735023
Samples
Known GenesATP11B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5404585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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