A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17530699



Internal ID21855055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221566980..221566980hg38UCSC Ensembl
chr2:222431700..222431700hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6045732
Supporting Variants
Samples
Known GenesEPHA4
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17530699
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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