A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278960



Internal ID22184481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:112346399..112361408hg38UCSC Ensembl
Outerchr10:114106157..114121166hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3815010
hg1915010
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229894
Supporting Variants
SamplesHG00731
Known GenesGUCY2GP
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278960
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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