A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6147110



Internal ID346303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76357235..76362500hg38UCSC Ensembl
chr5:75653060..75658325hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg385266
hg195266
Variant TypeCNV mobile element deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967186
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6147110
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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