A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5401597



Internal ID180974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:105441455..105441490hg38UCSC Ensembl
chr8:106453683..106453718hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735841
Samples
Known GenesZFPM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5401597
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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