A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3239754



Internal ID22374514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:28035731..28057404hg38UCSC Ensembl
Outerchr10:28324660..28346333hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg381369
hg191369
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282972, nssv14282973
SamplesHG00512, NA19238
Known GenesMPP7
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3239754
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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