A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5982864



Internal ID21892207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231399632..231410296hg38UCSC Ensembl
chr1:231535378..231546042hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3810665
hg1910665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17528916
Samples
Known GenesEGLN1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5982864
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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