A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187075



Internal ID20754115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78411281..78427766hg38UCSC Ensembl
chr17:76407362..76423847hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3816486
hg1916486
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6518891
Supporting Variants
Samples
Known GenesDNAH17, PGS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187075
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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