A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182346



Internal ID20749386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63605146..63716697hg38UCSC Ensembl
chr14:64071864..64183415hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38111552
hg19111552
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484330
Supporting Variants
Samples
Known GenesSGPP1, WDR89
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182346
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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