A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14280064



Internal ID22155134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133104397..133148313hg38UCSC Ensembl
Outerchr10:134917901..134961817hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3843917
hg1943917
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216226
Supporting Variants
SamplesHG00514
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14280064
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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