A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415909



Internal ID195156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:46207818..46208140hg38UCSC Ensembl
chr1:46673490..46673812hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901840
Samples
Known GenesLURAP1, POMGNT1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415909
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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