A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204351



Internal ID20771391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70594801..70597800hg38UCSC Ensembl
chr1:71060484..71063483hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323278
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204351
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00032


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