A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545776



Internal ID319787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48073487..48073524hg38UCSC Ensembl
chr17:46150849..46150886hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713539
Samples
Known GenesCBX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545776
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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