A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207373



Internal ID20774414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:167854205..167890381hg38UCSC Ensembl
chr2:168710715..168746891hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3836177
hg1936177
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354099
Supporting Variants
Samples
Known GenesB3GALT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207373
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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