A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145357



Internal ID344562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:47768908..47773643hg38UCSC Ensembl
chr18:45295279..45300014hg19UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg384736
hg194736
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717981
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145357
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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