A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240442



Internal ID22374703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71899757..71928217hg38UCSC Ensembl
Outerchr11:71610803..71639263hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3820204
hg1920204
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14254707, nssv14254706
SamplesNA19239, NA19240
Known GenesLOC100133315
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240442
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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