A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17397868



Internal ID22455738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122530774..122530774hg38UCSC Ensembl
chr3:122249621..122249621hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg38355
hg19355
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5962521
Supporting Variants
Samples
Known GenesPARP9
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17397868
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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