A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279857



Internal ID22184929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:115482160..115540541hg38UCSC Ensembl
Outerchr10:117241670..117300051hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3858382
hg1958382
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215124
Supporting Variants
SamplesHG00731
Known GenesATRNL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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