A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3247562



Internal ID22376754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:118629287..118639540hg38UCSC Ensembl
Outerchr9:121391565..121401818hg19UCSC Ensembl
Cytoband9q33.1
Allele length
AssemblyAllele length
hg384383
hg194383
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14283647, nssv14283646, nssv14283649, nssv14283648, nssv14283650
SamplesNA19238, NA19239, HG00731, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3247562
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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