A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432040



Internal ID210797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35697489..35697540hg38UCSC Ensembl
chr20:34285411..34285462hg19UCSC Ensembl
Cytoband20q11.22
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 Variantsnssv17725937
Samples
Known GenesNFS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432040
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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