A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270880



Internal ID22204710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:106989626..107019561hg38UCSC Ensembl
Outerchr3:106708473..106738408hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3829936
hg1929936
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195569
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270880
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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