A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3237094



Internal ID22373789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3103918..3131117hg38UCSC Ensembl
Outerchr19:3103916..3131115hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg382079
hg192079
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262996, nssv14262999, nssv14263003, nssv14262997, nssv14263000, nssv14263002, nssv14263001, nssv14262998
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGNA11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3237094
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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