A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886312



Internal ID22661298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44972129..44972342hg38UCSC Ensembl
chr1:45437801..45438014hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17370827
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886312
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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