A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17370407



Internal ID22596076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45539015..45539015hg38UCSC Ensembl
chr1:46004687..46004687hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948882
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17370407
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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