A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17480402



Internal ID22538305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8101627..8103328hg38UCSC Ensembl
chr19:8166511..8168212hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381702
hg191702
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871613
Supporting Variants
Samples
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17480402
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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