A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537057



Internal ID312416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42816857..42816859hg38UCSC Ensembl
chr17:40968875..40968877hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724535
Samples
Known GenesBECN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537057
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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