A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200181



Internal ID20767221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53414823..53497556hg38UCSC Ensembl
chr19:53918076..54000810hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3882734
hg1982735
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6531190
Supporting Variants
Samples
Known GenesTPM3P9, ZNF761, ZNF813
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200181
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00022


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