A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198142



Internal ID20765182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40541952..40580031hg38UCSC Ensembl
chr19:41047858..41085937hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3838080
hg1938080
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520332
Supporting Variants
Samples
Known GenesSHKBP1, SPTBN4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198142
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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