A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5561633



Internal ID334604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93266249..93266483hg38UCSC Ensembl
chr1:93731806..93732040hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908337
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5561633
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