A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17139217



Internal ID21418609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50316922..50316922hg38UCSC Ensembl
chr22:50755351..50755351hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5666026
Supporting Variants
SamplesHG00731
Known GenesDENND6B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17139217
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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