A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16268550



Internal ID20477768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12299616..12299616hg38UCSC Ensembl
chr1:12359673..12359673hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4750964
Supporting Variants
Samples
Known GenesVPS13D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16268550
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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