A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271764



Internal ID22131357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:194660146..194685163hg38UCSC Ensembl
Outerchr3:194380875..194405892hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3825018
hg1925018
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204062
Supporting Variants
SamplesHG00513
Known GenesLSG1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271764
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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