A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3240884



Internal ID22374806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35908996..35922565hg38UCSC Ensembl
Outerchr9:35908993..35922562hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282951, nssv14282952, nssv14281329, nssv14281327, nssv14282947, nssv14282949, nssv14281328, nssv14282950, nssv14282953, nssv14282948
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLINC00961
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3240884
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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