A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258508



Internal ID22201136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:23291523..23432978hg38UCSC Ensembl
Outerchr15:23564854..23678125hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38141456
hg19113272
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228156
Supporting Variants
SamplesHG00732
Known GenesGOLGA8S, LOC440243
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258508
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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