A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258829



Internal ID22262035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:83865144..83878395hg38UCSC Ensembl
Outerchr15:84533896..84547147hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3813252
hg1913252
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222387
Supporting Variants
SamplesNA19238
Known GenesADAMTSL3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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