A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17075524



Internal ID21483090
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 StatusS
Merged Variantsnsv5659332
Supporting Variants
SamplesHG03732
Known GenesSHANK2, SHANK2-AS1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17075524
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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