A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3250288



Internal ID22377495
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14259463
SamplesNA19239
Known GenesGOLGA6D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3250288
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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