A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547726



Internal ID321545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:29243768..29243771hg38UCSC Ensembl
chr21:30616089..30616092hg19UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726516
Samples
Known GenesLINC00189
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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