A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259463



Internal ID22275243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:75292165..75298056hg38UCSC Ensembl
Outerchr15:75584506..75590397hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3823954
hg1923954
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3250288
Supporting Variants
SamplesNA19239
Known GenesGOLGA6D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259463
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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