A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523337



Internal ID299580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75430209..75434978hg38UCSC Ensembl
chr16:75464107..75468876hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg384770
hg194770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710179
Samples
Known GenesCFDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523337
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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