A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431197



Internal ID209980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46272725..46296337hg38UCSC Ensembl
chr1:46738397..46762009hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3823613
hg1923613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901849
Samples
Known GenesLRRC41, RAD54L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431197
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