A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232359



Internal ID22372479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:119531909..119572986hg38UCSC Ensembl
Outerchr10:121291421..121332498hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg382008
hg192008
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1077n152
Supporting Variantsnssv14252818, nssv14252817, nssv14252820, nssv14252819, nssv14252816, nssv14252821, nssv14252823, nssv14252822
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesRGS10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232359
Frequency
Sample Size9
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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