A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214842



Internal ID20781882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66179328..66255938hg38UCSC Ensembl
chr5:65475156..65551766hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3876611
hg1976611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6411357
Supporting Variants
Samples
Known GenesSREK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214842
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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