A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189954



Internal ID21328799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30623825..30623825hg38UCSC Ensembl
chr22:31019812..31019812hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38113
hg19113
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3952524
Supporting Variants
SamplesHG002
Known GenesTCN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189954
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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