A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245253



Internal ID22376102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35491407..35498638hg38UCSC Ensembl
Outerchr9:35491404..35498635hg19UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282940, nssv14282943, nssv14282939, nssv14282938, nssv14282941, nssv14282944, nssv14282946, nssv14282945, nssv14282942
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesRUSC2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245253
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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