A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16271999



Internal ID20481217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:107476043..107476043hg38UCSC Ensembl
chr5:106811744..106811744hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4756307
Supporting Variants
Samples
Known GenesEFNA5
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16271999
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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