A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6112554



Internal ID22021787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:1988621..1988621hg38UCSC Ensembl
chr19:1988620..1988620hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17634264
Samples
Known GenesBTBD2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6112554
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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