A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548217



Internal ID321993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38870012..38870012hg38UCSC Ensembl
chr1:39335684..39335684hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904758
Samples
Known GenesGJA9-MYCBP, MYCBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548217
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