A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397719



Internal ID177123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41918811..41918862hg38UCSC Ensembl
chr4:41920828..41920879hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949587
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397719
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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