A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912224



Internal ID8899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42067218..42095328hg38UCSC Ensembl
chr2:42294358..42322468hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3828111
hg1928111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5451732
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912224
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