A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18214548



Internal ID20781589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118509549..118659681hg38UCSC Ensembl
chr6:118830712..118980844hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38150133
hg19150133
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6609662
Supporting Variants
Samples
Known GenesCEP85L, PLN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18214548
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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