A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236638



Internal ID22373647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:8576852..8780482hg38UCSC Ensembl
Outerchr19:8641736..8891158hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38180107
hg19180107
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262580, nssv14262582, nssv14262581, nssv14262583
SamplesNA19238, NA19240, HG00733, HG00514
Known GenesACTL9, ADAMTS10, MYO1F, OR2Z1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236638
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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