A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18183125



Internal ID20750165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103658489..103667550hg38UCSC Ensembl
chr14:104124826..104133887hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg389062
hg199062
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6500035
Supporting Variants
Samples
Known GenesKLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18183125
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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