A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6049098



Internal ID21958331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876563..44876563hg38UCSC Ensembl
chr1:45342235..45342235hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17523290
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6049098
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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