A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540816



Internal ID315521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43468146..43468200hg38UCSC Ensembl
chr21:44888026..44888080hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734816
Samples
Known GenesLINC00313
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540816
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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