A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214877



Internal ID20781917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:69284044..69287864hg38UCSC Ensembl
chr5:68579871..68583691hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg383821
hg193821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6406338
Supporting Variants
Samples
Known GenesCCDC125
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214877
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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