A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214088



Internal ID20781128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6448301..6449500hg38UCSC Ensembl
chr5:6448414..6449613hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6383071
Supporting Variants
Samples
Known GenesUBE2QL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214088
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