A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189823



Internal ID20756863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20013858..20436718hg38UCSC Ensembl
chr14:20482017..20904877hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38422861
hg19422861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6487981
Supporting Variants
Samples
Known GenesCCNB1IP1, KLHL33, OR11G2, OR11H4, OR11H6, OR4K13, OR4K14, OR4K17, OR4L1, OR4N5, PARP2, RPPH1, SNORD126, TEP1, TTC5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189823
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00036


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