A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925580



Internal ID17803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:220349539..220361285hg38UCSC Ensembl
chr2:221214260..221226006hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3811747
hg1911747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442520
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925580
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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