A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962781



Internal ID22737716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220844370..220844370hg38UCSC Ensembl
chr1:221017712..221017712hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352076
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962781
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