A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181216



Internal ID20748256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52447101..52458100hg38UCSC Ensembl
chr13:53021236..53032235hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3811000
hg1911000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6484788
Supporting Variants
Samples
Known GenesCKAP2, VPS36
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181216
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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