A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16294139



Internal ID20503357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:134193764..134193764hg38UCSC Ensembl
chr6:134514902..134514902hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38124
hg19124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4760961
Supporting Variants
Samples
Known GenesSGK1
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16294139
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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