A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419166



Internal ID198310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40282326..40393224hg38UCSC Ensembl
chr1:40747998..40858896hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38110899
hg19110899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901536
Samples
Known GenesCOL9A2, SMAP2, ZMPSTE24
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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