A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125879



Internal ID20692919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:143416801..143417700hg38UCSC Ensembl
chr5:142796366..142797265hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6413606
Supporting Variants
Samples
Known GenesNR3C1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125879
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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