A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271682



Internal ID22277452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:96265673..96344752hg38UCSC Ensembl
Outerchr3:95984517..96063596hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3879080
hg1979080
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191278
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271682
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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