A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977187



Internal ID52185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173919044..173919095hg38UCSC Ensembl
chr5:173346047..173346098hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563544
Supporting Variants
Samples
Known GenesCPEB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977187
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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