A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515671



Internal ID292148
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 StatusM
Merged Variants
Supporting Variantsnssv17723804
Samples
Known GenesSEPW1, TPRX1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515671
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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