A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546942



Internal ID320839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37122422..37122422hg38UCSC Ensembl
chr21:38494722..38494722hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38155
hg19155
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17734760
Samples
Known GenesTTC3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546942
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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