A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555191



Internal ID328355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10975623..10975674hg38UCSC Ensembl
chr19:11086299..11086350hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38835
hg19835
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721362
Samples
Known GenesSMARCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555191
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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