A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16889494



Internal ID167083
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143351000..143356293hg38UCSC Ensembl
chr2:91774345..91779603hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg385294
hg195259
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138087
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16889494
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.075138


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