A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5400518



Internal ID179899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92117417..92117468hg38UCSC Ensembl
chr1:92582974..92583025hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906454
Samples
Known GenesBTBD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5400518
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