A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194832



Internal ID20761872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78477799..78478482hg38UCSC Ensembl
chr17:76473881..76474564hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533030
Supporting Variants
Samples
Known GenesDNAH17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194832
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00016


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