A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277877



Internal ID22270324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133107553..133148313hg38UCSC Ensembl
Outerchr10:134921057..134961817hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3840761
hg1940761
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221873
Supporting Variants
SamplesNA19239
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277877
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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