A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553908



Internal ID327109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245126108..245126158hg38UCSC Ensembl
chr1:245289410..245289460hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899904
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553908
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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