A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199620



Internal ID20766660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55169388..55215513hg38UCSC Ensembl
chr19:55680756..55726881hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3846126
hg1946126
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523362
Supporting Variants
Samples
Known GenesPTPRH, SYT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199620
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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