A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18198968



Internal ID20766008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48004079..48034681hg38UCSC Ensembl
chr19:48507336..48537938hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3830603
hg1930603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6520484
Supporting Variants
Samples
Known GenesCABP5, ELSPBP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18198968
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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