A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720893



Internal ID144559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6069998..6070066hg38UCSC Ensembl
chr19:6070009..6070077hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5514503
Supporting Variants
Samples
Known GenesRFX2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720893
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.035567


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