A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5605895



Internal ID21554200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120864420..120864420hg38UCSC Ensembl
chr2:121621995..121621995hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38957
hg19957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17108143
SamplesHG01596
Known GenesGLI2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5605895
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