A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18086712



Internal ID20653752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:233719302..233729603hg38UCSC Ensembl
chr2:234627948..234638249hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3810302
hg1910302
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348417
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)nssv18086712
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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