A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230878



Internal ID22372058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:128460078..128464756hg38UCSC Ensembl
Outerchr10:130258342..130263020hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg383312
hg193312
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252945, nssv14252943, nssv14252946, nssv14252957, nssv14252958, nssv14252944
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230878
Frequency
Sample Size9
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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