A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200232



Internal ID20767272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:53845647..53899672hg38UCSC Ensembl
chr19:54348901..54402926hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3854026
hg1954026
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523010
Supporting Variants
Samples
Known GenesMYADM, PRKCG
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200232
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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