A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17483355



Internal ID22541262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233739656..233744566hg38UCSC Ensembl
chr2:234648302..234653212hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg384911
hg194911
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5832813
Supporting Variants
Samples
Known GenesDNAJB3, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17483355
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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