A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546965



Internal ID320861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172965096..172965096hg38UCSC Ensembl
chr4:173886247..173886247hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959245
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546965
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