A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5631993



Internal ID21580298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:11817505..11817505hg38UCSC Ensembl
chr5:11817617..11817617hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17123395
SamplesHG03371
Known GenesCTNND2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5631993
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