A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3241686



Internal ID22375039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:15345022..15369984hg38UCSC Ensembl
Outerchr11:15366568..15391530hg19UCSC Ensembl
Cytoband11p15.2
Allele length
AssemblyAllele length
hg381618
hg191618
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255166, nssv14255163, nssv14255165, nssv14255164, nssv14255162
SamplesHG00512, HG00731, NA19240, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3241686
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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