A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262580



Internal ID22145684
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3236638
Supporting Variants
SamplesHG00514
Known GenesACTL9, ADAMTS10, MYO1F, OR2Z1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262580
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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