A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722692



Internal ID146358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30015906..30015909hg38UCSC Ensembl
chr19:30506813..30506816hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5423682
Supporting Variants
Samples
Known GenesURI1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722692
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002498


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