A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276757



Internal ID22260572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:43704516..43714633hg38UCSC Ensembl
Outerchr10:44199964..44210081hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3810118
hg1910118
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224540
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276757
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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