A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971768



Internal ID48531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103134490..103134563hg38UCSC Ensembl
chr5:102470194..102470267hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457122
Supporting Variants
Samples
Known GenesPPIP5K2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971768
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