A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13679009



Internal ID21200869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41835230..41835230hg38UCSC Ensembl
chr22:42231234..42231234hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg38135
hg19135
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804469
Supporting Variants
Samples
Known GenesSREBF2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13679009
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.75


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