A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086706



Internal ID20653746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233639409..233731802hg38UCSC Ensembl
chr2:234548055..234640448hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3892394
hg1992394
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353801
Supporting Variants
Samples
Known GenesUGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18086706
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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