A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144483



Internal ID21448034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42422276..42422276hg38UCSC Ensembl
chr6:42390014..42390014hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5634042
Supporting Variants
SamplesHG00733
Known GenesTRERF1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144483
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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