A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519180



Internal ID295536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:263125..505632hg38UCSC Ensembl
chr16:313124..555632hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38242508
hg19242509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17705684
Samples
Known GenesARHGDIG, AXIN1, DECR2, ITFG3, LOC100134368, MRPL28, NME4, PDIA2, RAB11FIP3, RGS11, TMEM8A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519180
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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