A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270195



Internal ID22259077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:102292442..102381489hg38UCSC Ensembl
Outerchr3:102011286..102100333hg19UCSC Ensembl
Cytoband3q12.3
Allele length
AssemblyAllele length
hg3889048
hg1989048
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210106
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270195
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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