A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974467



Internal ID50348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140297617..140297668hg38UCSC Ensembl
chr5:139677202..139677253hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5409228
Supporting Variants
Samples
Known GenesPFDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974467
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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