A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214033



Internal ID20781073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54206978..54565421hg38UCSC Ensembl
chr5:53502808..53861251hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38358444
hg19358444
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6409512
Supporting Variants
Samples
Known GenesARL15, HSPB3, SNX18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214033
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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