A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15187414



Internal ID21326252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36680685..36680685hg38UCSC Ensembl
chr22:37076730..37076730hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3939603
Supporting Variants
SamplesHG002
Known GenesCACNG2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15187414
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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