A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427529



Internal ID206433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:35292760..35292811hg38UCSC Ensembl
chr18:32872724..32872775hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg38245
hg19245
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717298
Samples
Known GenesZNF271
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427529
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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