A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5659332



Internal ID21607637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70631785..70631785hg38UCSC Ensembl
chr11:70477890..70477890hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38996
hg19996
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17075524
SamplesHG03732
Known GenesSHANK2, SHANK2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5659332
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