A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17707157



Internal ID130823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69952091..70193391hg38UCSC Ensembl
chr16:69985994..70227294hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38241301
hg19241301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144955
Supporting Variants
Samples
Known GenesCLEC18A, CLEC18C, MIR1972-1, MIR1972-2, PDPR, PDXDC2P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17707157
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.01441


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer