A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5403042



Internal ID182406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:55454162..55454213hg38UCSC Ensembl
chr8:56366722..56366773hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012365
Samples
Known GenesSBF1P1, XKR4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5403042
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