A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16896780



Internal ID172000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:501968..535000hg38UCSC Ensembl
chr5:180715774..180743984hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3833033
hg1928211
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138433
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16896780
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003179


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