A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706785



Internal ID130451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2550000..2638000hg38UCSC Ensembl
chr16:2600001..2688001hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3888001
hg1988001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144338
Supporting Variants
Samples
Known GenesLOC652276, PDPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706785
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004661


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