A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208447



Internal ID20775488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125809302..126046231hg38UCSC Ensembl
chr3:125528145..125765074hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38236930
hg19236930
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367552
Supporting Variants
Samples
Known GenesALG1L, FAM86JP, ROPN1B, SLC41A3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208447
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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