A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5559271



Internal ID332309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99359851..99359902hg38UCSC Ensembl
chr7:98957474..98957525hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381478
hg191478
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17002887
Samples
Known GenesARPC1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5559271
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