A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259470



Internal ID22270323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:83435860..83437516hg38UCSC Ensembl
Outerchr15:84104612..84106268hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3818019
hg1918019
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3235502
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259470
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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