A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13682216



Internal ID21204077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17094688..17094688hg38UCSC Ensembl
chr22:17575578..17575578hg19UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2804356
Supporting Variants
Samples
Known GenesIL17RA
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13682216
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.209677


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