A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277914



Internal ID22218304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:21152771..21161556hg38UCSC Ensembl
Outerchr10:21441700..21450485hg19UCSC Ensembl
Cytoband10p12.31
Allele length
AssemblyAllele length
hg388786
hg198786
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215194
Supporting Variants
SamplesHG00733
Known GenesNEBL
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277914
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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