A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17459164



Internal ID22517046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42879825..42896376hg38UCSC Ensembl
chr1:43345496..43362047hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3816552
hg1916552
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5830323
Supporting Variants
Samples
Known GenesLOC339539
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17459164
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