A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225311



Internal ID22368483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:31963430..31977388hg38UCSC Ensembl
Outerchr10:32252358..32266316hg19UCSC Ensembl
Cytoband10p11.22
Allele length
AssemblyAllele length
hg3813959
hg1913959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv860n152
Supporting Variantsnssv14276641, nssv14276644, nssv14276638, nssv14276642, nssv14276639, nssv14276640, nssv14276643
SamplesNA19238, NA19239, 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)nsv3225311
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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