A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5450175



Internal ID228392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220633330..220633405hg38UCSC Ensembl
chr1:220806672..220806747hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896324
Samples
Known GenesMARK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5450175
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