A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955562



Internal ID22730763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:108689608..108689608hg38UCSC Ensembl
chr1:109232230..109232230hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17359465
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955562
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