A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424471



Internal ID203462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:4601490..4602619hg38UCSC Ensembl
chr1:4661550..4662679hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg381130
hg191130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906171
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424471
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