A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278821



Internal ID22277961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:57447301..57507696hg38UCSC Ensembl
Outerchr10:59207061..59267456hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3860396
hg1960396
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216282
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278821
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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