A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3952043



Internal ID21372112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49913640..49913640hg38UCSC Ensembl
chr3:49951073..49951073hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15188359
SamplesHG002
Known GenesMON1A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3952043
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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