A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277218



Internal ID22226636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:15290903..15292554hg38UCSC Ensembl
Outerchr6:15291134..15292785hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38143501
hg19143501
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224089
Supporting Variants
SamplesHG00733
Known GenesJARID2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277218
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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