A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17136490



Internal ID21417432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50683802..50683802hg38UCSC Ensembl
chr22:51122230..51122230hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg381409
hg191409
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666609
Supporting Variants
SamplesHG00731
Known GenesSHANK3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17136490
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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