A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259593



Internal ID22272114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:68391012..68401959hg38UCSC Ensembl
Outerchr15:68683351..68694298hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg384299
hg194299
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248765
Supporting Variants
SamplesNA19239
Known GenesITGA11
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259593
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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