A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3231635



Internal ID22372285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14563802..14625907hg38UCSC Ensembl
Outerchr19:14674614..14736719hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381397
hg191397
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14262619, nssv14262620
SamplesNA19238, HG00732
Known GenesCLEC17A, EMR3, NDUFB7, TECR
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3231635
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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