A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17413231



Internal ID22471101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:69601740..69607083hg38UCSC Ensembl
chr4:70467458..70472801hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg385344
hg195344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904766
Supporting Variants
Samples
Known GenesUGT2A1, UGT2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17413231
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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