A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253024



Internal ID22307216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1614691..1618064hg38UCSC Ensembl
Outerchr10:1656886..1660259hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381458
hg191458
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3247219
Supporting Variants
SamplesNA19240
Known GenesADARB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253024
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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