A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14253022



Internal ID22284677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1324940..1347604hg38UCSC Ensembl
Outerchr10:1367135..1389799hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg381031
hg191031
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3241290
Supporting Variants
SamplesNA19239
Known GenesADARB2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14253022
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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