A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723282



Internal ID146948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38827604..38827787hg38UCSC Ensembl
chr19:39318244..39318427hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5529253
Supporting Variants
Samples
Known GenesECH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723282
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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