A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16978633



Internal ID53125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172947826..172947981hg38UCSC Ensembl
chr5:172374829..172374984hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468730
Supporting Variants
Samples
Known GenesERGIC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16978633
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