A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18193145



Internal ID20760185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:81273870..81296865hg38UCSC Ensembl
chr17:79247670..79270665hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3822996
hg1922996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6534625
Supporting Variants
Samples
Known GenesSLC38A10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18193145
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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