A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212503



Internal ID20779543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:119019212..119112728hg38UCSC Ensembl
chr5:118354907..118448423hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3893517
hg1993517
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413364
Supporting Variants
Samples
Known GenesDMXL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212503
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