A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15189944



Internal ID21328771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28730264..28730264hg38UCSC Ensembl
chr22:29126252..29126252hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg38138
hg19138
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3932364
Supporting Variants
SamplesHG002
Known GenesCHEK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15189944
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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