A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3210294



Internal ID22358236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:26952061..26976709hg38UCSC Ensembl
Outerchr4:26953683..26978331hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3824649
hg1924649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273873
SamplesNA19239
Known GenesSTIM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3210294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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