A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517451



Internal ID293873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3016349..3065688hg38UCSC Ensembl
chr16:3066350..3115689hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3849340
hg1949340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705398
Samples
Known GenesCCDC64B, CLDN6, HCFC1R1, IL32, LOC100128770, MMP25, THOC6, TNFRSF12A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517451
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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