A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427690



Internal ID206587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161190317..161190379hg38UCSC Ensembl
chr1:161160107..161160169hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892372
Samples
Known GenesADAMTS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427690
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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