A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259081



Internal ID22193349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:90645122..90666451hg38UCSC Ensembl
Outerchr15:91188354..91209682hg19UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg381373
hg191373
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231563
Supporting Variants
SamplesHG00731
Known GenesCRTC3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259081
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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