A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5397595



Internal ID177001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:79478640..79478678hg38UCSC Ensembl
chr9:82093555..82093593hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38269
hg19269
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024518
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5397595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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