A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4755220



Internal ID20531080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876556..44876556hg38UCSC Ensembl
chr1:45342228..45342228hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38393
hg19393
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16286788
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4755220
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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