A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906098



Internal ID4863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65430736..65430739hg38UCSC Ensembl
chr1:65896419..65896422hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5548374
Supporting Variants
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906098
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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