A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5893573



Internal ID22668635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:171001779..171001846hg38UCSC Ensembl
chr3:170719568..170719635hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17411580
Samples
Known GenesSLC2A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5893573
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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