A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927390



Internal ID18972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:181094862..181095053hg38UCSC Ensembl
chr2:181959589..181959780hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5444064
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927390
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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