A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3947597



Internal ID21367666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33760264..33760264hg38UCSC Ensembl
chr19:34251169..34251169hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38105
hg19105
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15186151
SamplesHG002
Known GenesCHST8
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3947597
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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