A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232550



Internal ID22372533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:124466365..124482334hg38UCSC Ensembl
Outerchr10:126154934..126170903hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg381405
hg191405
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14252861, nssv14252865, nssv14252860, nssv14252863, nssv14252866, nssv14252862, nssv14252867, nssv14252868, nssv14252864
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesLHPP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232550
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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