A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397375



Internal ID22455245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233757535..233757535hg38UCSC Ensembl
chr2:234666181..234666181hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5953611
Supporting Variants
Samples
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397375
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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