A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538576



Internal ID313647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:36804740..36804773hg38UCSC Ensembl
chr21:38177041..38177074hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17726796
Samples
Known GenesHLCS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538576
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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