A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17631174



Internal ID21823221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55286022..55286022hg38UCSC Ensembl
chr19:55797390..55797390hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6104872
Supporting Variants
Samples
Known GenesBRSK1
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17631174
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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