A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18126459



Internal ID20693499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:120142201..120143400hg38UCSC Ensembl
chr5:119477896..119479095hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415014
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18126459
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00026


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