A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5533856



Internal ID309734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80169578..80199257hg38UCSC Ensembl
chr17:78143377..78173056hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3829680
hg1929680
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714974
Samples
Known GenesCARD14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5533856
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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