A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471264



Internal ID249005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:171907058..171911356hg38UCSC Ensembl
chr4:172828209..172832507hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg384299
hg194299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959167
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471264
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