A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253000



Internal ID22183118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:132324427..132395517hg38UCSC Ensembl
Outerchr10:134137931..134209021hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383682
hg193682
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3246763
Supporting Variants
SamplesHG00514
Known GenesLRRC27
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253000
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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