A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259615



Internal ID22256372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:74263146..74264677hg38UCSC Ensembl
Outerchr15:74555487..74557018hg19UCSC Ensembl
Cytoband15q24.1
Allele length
AssemblyAllele length
hg388520
hg198520
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3232272
Supporting Variants
SamplesNA19238
Known GenesCCDC33
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259615
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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