A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214239



Internal ID20781279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82140901..82143800hg38UCSC Ensembl
chr5:81436720..81439619hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg382900
hg192900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6407209
Supporting Variants
Samples
Known GenesATG10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214239
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00071


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