A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423922



Internal ID202928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35475906..35475957hg38UCSC Ensembl
chr18:33055870..33055921hg19UCSC Ensembl
Cytoband18q12.2
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 Variantsnssv17717311
Samples
Known GenesINO80C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423922
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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