A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431580



Internal ID210353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145068375..145073049hg38UCSC Ensembl
chr1:143936094..143940762hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg384675
hg194669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890002
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431580
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