A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419183



Internal ID198324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51119765..51153631hg38UCSC Ensembl
chr1:51585437..51619303hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3833867
hg1933867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902972
Samples
Known GenesC1orf185
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer