A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258475



Internal ID22132482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:83865144..83876134hg38UCSC Ensembl
Outerchr15:84533896..84544886hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3810991
hg1910991
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212375
Supporting Variants
SamplesHG00513
Known GenesADAMTSL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258475
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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