A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523114



Internal ID299360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11695142..11761252hg38UCSC Ensembl
chr16:11788998..11855108hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3866111
hg1966111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704595
Samples
Known GenesTXNDC11, ZC3H7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523114
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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