A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523610



Internal ID299835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:27201257..27316154hg38UCSC Ensembl
chr16:27212578..27327475hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg38114898
hg19114898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706262
Samples
Known GenesFLJ21408, IL4R, KDM8, NSMCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523610
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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