A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3236492



Internal ID22373594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:100650222..100671113hg38UCSC Ensembl
Outerchr10:102409979..102430870hg19UCSC Ensembl
Cytoband10q24.31
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253438, nssv14253437, nssv14253436
SamplesHG00732, HG00733, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3236492
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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