A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720786



Internal ID144452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4912000..4968000hg38UCSC Ensembl
chr19:4912012..4968011hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3856001
hg1956000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145416
Supporting Variants
Samples
Known GenesMIR4747, UHRF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720786
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002166


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