A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259444



Internal ID22284757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:42617393..42635106hg38UCSC Ensembl
Outerchr15:42909591..42927304hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg382570
hg192570
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248082
Supporting Variants
SamplesNA19239
Known GenesSTARD9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259444
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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