A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178129



Internal ID20745169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96211685..96234338hg38UCSC Ensembl
chr14:96678022..96700675hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3822654
hg1922654
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6513241
Supporting Variants
Samples
Known GenesBDKRB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178129
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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