A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723804



Internal ID147470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47771888..47812938hg38UCSC Ensembl
chr19:48275145..48316195hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3841051
hg1941051
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515671
Supporting Variants
Samples
Known GenesSEPW1, TPRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723804
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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