A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5452800



Internal ID230943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239751524..240136835hg38UCSC Ensembl
chr1:239914824..240300135hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38385312
hg19385312
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897591
Samples
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5452800
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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