A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556130



Internal ID329274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:12398554..12398558hg38UCSC Ensembl
chr6:12398786..12398790hg19UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg385
hg195
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16979106
Samples
Known Genes
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556130
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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