A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189146



Internal ID21327994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:20338388..20338388hg38UCSC Ensembl
chr22:20325911..20325911hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3927686
Supporting Variants
SamplesHG002
Known GenesLOC729444
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189146
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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