A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3230489



Internal ID22371943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:125425611..125519838hg38UCSC Ensembl
Outerchr10:127114180..127208407hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381215
hg191215
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252879, nssv14252882, nssv14252877, nssv14252878, nssv14252883, nssv14252881, nssv14252880
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3230489
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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