A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390143



Internal ID22448013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11040187..11040503hg38UCSC Ensembl
chr19:11150863..11151179hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933272
Supporting Variants
Samples
Known GenesSMARCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390143
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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