A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6087229



Internal ID21996462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78182216..78182216hg38UCSC Ensembl
chr17:76178297..76178297hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17633057
Samples
Known GenesTK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6087229
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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