A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204436



Internal ID20771476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76310436..76438410hg38UCSC Ensembl
chr1:76776121..76904095hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38127975
hg19127975
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316115
Supporting Variants
Samples
Known GenesST6GALNAC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204436
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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