A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187166



Internal ID20754206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28654864..28664328hg38UCSC Ensembl
chr17:26981882..26991346hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg389465
hg199465
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6496974
Supporting Variants
Samples
Known GenesSDF2, SUPT6H
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187166
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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