A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244719



Internal ID22375938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70352081..70373331hg38UCSC Ensembl
Outerchr11:70198187..70219437hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384957
hg194957
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14255122, nssv14255115, nssv14255119, nssv14255116, nssv14255118, nssv14255114, nssv14255120, nssv14255121, nssv14255117
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPPFIA1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244719
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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