A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417321



Internal ID196520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42762227..42769842hg38UCSC Ensembl
chr1:43227898..43235513hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387616
hg197616
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901733
Samples
Known GenesC1orf50, LEPRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417321
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