A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17720480



Internal ID144146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2900000..2908000hg38UCSC Ensembl
chr19:2899998..2907998hg19UCSC 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 Variantsnsv6144988
Supporting Variants
Samples
Known GenesZNF57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17720480
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0038


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