A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555793



Internal ID328943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75669247..75673027hg38UCSC Ensembl
chr1:76134932..76138712hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383781
hg193781
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907415
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555793
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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