A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277532



Internal ID22198851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:6186002..6215131hg38UCSC Ensembl
Outerchr10:6227965..6257094hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3829130
hg1929130
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229898
Supporting Variants
SamplesHG00732
Known GenesPFKFB3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277532
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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