A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976101



Internal ID51470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139335791..139335847hg38UCSC Ensembl
chr5:138671480..138671536hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5456884
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976101
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