A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17493080



Internal ID22551008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112323484..112355745hg38UCSC Ensembl
chr5:111659181..111691442hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3832262
hg1932262
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5840356
Supporting Variants
Samples
Known GenesEPB41L4A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17493080
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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