A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196893



Internal ID20763933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:12882801..12885000hg38UCSC Ensembl
chr18:12882800..12884999hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534172
Supporting Variants
Samples
Known GenesPTPN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196893
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00014


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