A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17481139



Internal ID22539043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65551074..65559725hg38UCSC Ensembl
chr1:66016757..66025408hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg388652
hg198652
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830618
Supporting Variants
Samples
Known GenesLEPR
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17481139
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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