A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3243689



Internal ID22375645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17826196..17847270hg38UCSC Ensembl
Outerchr17:17729510..17750584hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381091
hg191091
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14260565, nssv14260564, nssv14260566
SamplesNA19238, NA19239, HG00731
Known GenesSREBF1, TOM1L2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3243689
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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