A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5961373



Internal ID22736332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222969370..222969370hg38UCSC Ensembl
chr1:223142712..223142712hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17358286
Samples
Known GenesDISP1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5961373
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