A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975021



Internal ID50734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132358569..132358620hg38UCSC Ensembl
chr5:131694262..131694313hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5410779
Supporting Variants
Samples
Known GenesLOC553103
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975021
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