A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906097



Internal ID4862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65426143..65426231hg38UCSC Ensembl
chr1:65891826..65891914hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138434
Supporting Variants
Samples
Known GenesLEPR, LEPROT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906097
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.080106


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