A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6040871



Internal ID21950209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18179597..18201088hg38UCSC Ensembl
chr19:18290407..18311898hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3821492
hg1921492
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17619053
Samples
Known GenesMPV17L2, RAB3A
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6040871
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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