A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18206248



Internal ID20773288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233729930..233748059hg38UCSC Ensembl
chr2:234638576..234656705hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3818130
hg1918130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355112
Supporting Variants
Samples
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18206248
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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