A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471003



Internal ID248748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163927781..163927852hg38UCSC Ensembl
chr6:164348813..164348884hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3872
hg1972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16990537
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471003
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