A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6488802



Internal ID21146355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53032525..53088466hg38UCSC Ensembl
chr14:53499243..53555184hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3855942
hg1955942
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18177933
Samples
Known GenesDDHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6488802
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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