A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18221982



Internal ID20789022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:69604363..69604775hg38UCSC Ensembl
chr9:72219279..72219691hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6454663
Supporting Variants
Samples
Known GenesAPBA1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18221982
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00068


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