A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16897591



Internal ID172555
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 StatusS
Merged Variantsnsv5452800
Supporting Variants
Samples
Known GenesCHRM3, CHRM3-AS1, FMN2, RPS7P5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16897591
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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