A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241081



Internal ID22374869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:71899757..71915228hg38UCSC Ensembl
Outerchr11:71610803..71626274hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg388318
hg198318
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255706
SamplesHG00512
Known GenesLOC100133315
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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