A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17705684



Internal ID129350
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 StatusS
Merged Variantsnsv5519180
Supporting Variants
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)nssv17705684
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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