A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470401



Internal ID248161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57224186..57235069hg38UCSC Ensembl
chr6:57088984..57099867hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg3810884
hg1910884
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16983386
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470401
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