A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3232048



Internal ID22372407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:9323629..9383021hg38UCSC Ensembl
Outerchr10:9365592..9424984hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg382188
hg192188
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14253039, nssv14253038
SamplesHG00512, NA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3232048
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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