A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6526749



Internal ID20900110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41415001..41417741hg38UCSC Ensembl
chr19:41920906..41923646hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382741
hg192741
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18198812
Samples
Known GenesBCKDHA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6526749
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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