A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549594



Internal ID323235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20830805..20830847hg38UCSC Ensembl
chr1:21157298..21157340hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg381711
hg191711
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899398
Samples
Known GenesEIF4G3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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