A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3940040



Internal ID21360109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:219941483..219941555hg38UCSC Ensembl
chr1:220114825..220114897hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15179800
SamplesHG002
Known GenesRNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3940040
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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