A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14258443



Internal ID22118604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:69130756..69223605hg38UCSC Ensembl
Outerchr15:69423095..69515944hg19UCSC Ensembl
Cytoband15q23
Allele length
AssemblyAllele length
hg3892850
hg1992850
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224849
Supporting Variants
SamplesHG00512
Known GenesGLCE, MIR548H4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14258443
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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