A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280698



Internal ID22185700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:113803155..113825714hg38UCSC Ensembl
Outerchr10:115562914..115585473hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg3822560
hg1922560
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219857
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280698
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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