A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277172



Internal ID22260291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133107553..133159696hg38UCSC Ensembl
Outerchr10:134921057..134973200hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3852144
hg1952144
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219734
Supporting Variants
SamplesNA19238
Known GenesGPR123
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277172
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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