A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5938342



Internal ID22713721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19282169..19283644hg38UCSC Ensembl
chr19:19392978..19394453hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381476
hg191476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395244
Samples
Known GenesSUGP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5938342
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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