A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177195



Internal ID20744235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50114301..50121400hg38UCSC Ensembl
chr14:50581019..50588118hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg387100
hg197100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6491482
Supporting Variants
Samples
Known GenesSOS2, VCPKMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177195
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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