A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18134502



Internal ID20701542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76861591..76863790hg38UCSC Ensembl
chr5:76157416..76159615hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398372
Supporting Variants
Samples
Known GenesS100Z
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18134502
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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