A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204435



Internal ID20771475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76108401..76112100hg38UCSC Ensembl
chr1:76574086..76577785hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383700
hg193700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6319792
Supporting Variants
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204435
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00051


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