A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258412



Internal ID22271849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:95496295..95505915hg38UCSC Ensembl
Outerchr15:96039524..96049144hg19UCSC Ensembl
Cytoband15q26.2
Allele length
AssemblyAllele length
hg389621
hg199621
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217901
Supporting Variants
SamplesNA19239
Known GenesLINC00924
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258412
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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