A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17400565



Internal ID22458435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:37484416..37484416hg38UCSC Ensembl
chr22:37880454..37880454hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975959
Supporting Variants
Samples
Known GenesMFNG
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17400565
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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