A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271493



Internal ID22187033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:79184441..79210541hg38UCSC Ensembl
Outerchr3:79233591..79259691hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3826101
hg1926101
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3201920
Supporting Variants
SamplesHG00731
Known GenesROBO1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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