A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18184643



Internal ID20751683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28821785..28825504hg38UCSC Ensembl
chr17:27148803..27152522hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383720
hg193720
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496010
Supporting Variants
Samples
Known GenesFAM222B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18184643
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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