A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720469



Internal ID144135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2846000..2854000hg38UCSC Ensembl
chr19:2845998..2853998hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144439
Supporting Variants
Samples
Known GenesZNF555
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000896


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