A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190086



Internal ID20757126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21211381..21450256hg38UCSC Ensembl
chr14:21679540..21918415hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38238876
hg19238876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6476132
Supporting Variants
Samples
Known GenesCHD8, HNRNPC, RPGRIP1, SNORD8, SNORD9, SUPT16H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190086
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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