A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3194603



Internal ID22344895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52888216..52896933hg38UCSC Ensembl
Outerchr3:52922232..52930949hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg388718
hg198718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14271079
SamplesHG00512
Known GenesTMEM110, TMEM110-MUSTN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3194603
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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